H-InvDB_9.0 released on May 27, 2015.
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H-Inv ID (HIT)
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H-Invitational ID:
HIT000046339
Accession number:
AK126466
Created date:
26-Mar-2013
Last modified:
27-May-2015
Definition:
Chaperone activity of bc1 complex-like, mitochondrial; Chaperone-ABC1-like; EC=2.7.11.-; aarF domain-containing protein kinase 3; Precursor;
Select format
Flat file
XML file
Nucleotide sequence fasta
Protein sequence fasta
Transcript original information
Accession number
AK126466.1
CAGE tag ID
NA
EST ID
NA
Clone Number
UTERU3001059
Experimental resources
NBRC
;
HGPD
;
Antibody (ADCK3)
;
Catalog (ADCK3)
;
Sequence data provider
Project:FLJ; Provider:FLJ/HRI;
Annotation project
H-Invitational FLcDNA
Length of cDNA
5524[bp] (No. of exon:20)[A:1180 T:1432 G:1457 C:1455]
Devision
HUM
Molecular type
mRNA
Library origin
Cell type
NA
Tissue type
uterus
Develpmental stage
NA
Sequence quality information
CDS feature
Complete CDS
Kozak sequence
NA
PolyA
NA
Vector/adapter sequence
NA
Frame shift
NA
Remaining intron
NA
Splice site acceptor (NAGNAG)
AAGGAG;
Transcript quality feature
NA
Notes
NA
CTTGGAGGTCCCCAGAGAGCAGGGAGACAAATGAACCCAGAACACAAATG GCAAAGAAGAAAAATGAGAGAATTTGTAAAAGACAGCATTCGAACATGCC GAACAAGAGCAGGGTACTGGTGTTCAAACACCTGTATCTCCCCCGTGTAA CCCGTCAACTAATATCTTTCCATATTTGCTCCAGATTTGTCTTTAGAAAT AAAACCCACGTTCTGAAGTCCTGTTTGTATGTGGCCCCAGTCCTGTTGCC TCCGCCTCCTGTCCTGAAGTCGATTTCTGCCCTTCTCATCTATGGTTAGT TTTGTTTTGTATGTTGGCATGTTTTCTTAACTTTACAGAAATGGTATCAT ACTGTACATATTTGATAATTTTTTAAAATATTGCATTCTGGAGGCATGTA TAAATGTAGCTCCAGTTCATTTATTTTATTTATTTTTTGAGATGGAGTTT TGCTCTTGTCACCCAGGCTAGAGTGCAATGGCGTGATGCTGGCTCACTGC AACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGTCTCAATTTCCTGAGT AGCTGGGATTACAGTTGCCCGCCACCATGCCTGGCTAGTTTTGTATTTTA GTAGAGACGGGGTTTCACCACGTTAGCCAGGCTGGTCTCAAACTCCTGAC TGCAGGTGATCCACGCACCTTGGCCTCCAAAAGTGCTGGGATTACAGGCG TGAGCCACCGTGCCCAGCCCAGTTATTTTAACTATTGTATAGTGTTCCAT TGTATGAGTTCTACTGTTTATATGCTATTGATCGACCTGTAGGGGTTTTG CAGTGTTTCTGTATTACAGCTGTGCTGCAGTGAGCATCCCATCACATTGT GTGGATTTGAGGAAGTATTGGAATTCCCCCAATTGACTGGACATTCCCAA TTACCCTCCAAGTATGTGTCTGTTTATCCTTCCATCCGCAATCTGAGAGT TCCCCAACTCTATAATACTTGGTGTCATCAGACTTTTCATCTTGTCTGAT TGGATGGGTGTCATTTCCTTTAGGTTTTATAATTATCTTTTCATATGTGT ATTGGCTGTACAAGGTTCCTTCTCTGTTCATTATTATTAATTTTTTTAGA CAGAGTCTCGCGCTGTCGCCCAGGCTGGAGTGCAGCAGCGTGATCTTGGC TCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCT CCTGAGTAGCTGGGATTACAGGTGCCTGCCATCACGCCCGGCTAGTTTTT TTGTATTTTGAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGAGGGTCTC GATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGTGTGAGTCACTGCGCCCAGCCCAAGTTTCCTTCTCTGTTACTT GTTCATATCCTCTGCCCATTTTTCACTTGGATTTTTTGTCTTACGGATAT TTAAGCCTCTTAAAATATATATTCTGGAGAGATGCTAATCTTTGATTAAT TATATGCATTGCAAATGTCTGGTACATTGTGGCTTGCCTCTCTTCCCTGC CTTTAGGAGTGTTTTGCTGGACCCAAGTAATTTTTAAATGTTAATGTTAT TAAATCTATCAGTTTTTTGCTTGTATGGCTTATGCCATTGAATCTTGTTT TAAGAGATCCTTCCCTACCCTCAAGGTTTTCTAAATTTTTATTTTCATAA CAAGATTTTTAGTTCATCTGAAATGTATTTTTATGATTGTATTTAGTAGG GACCTAATTTTGTTTTTCTTTGTAACCAGGTGTCCCAGCACTGTTTACTG AACAGTCTCTCCTTTCTCGCTGGTCTGTAGAACTCTCCTGACATATACCA AGTTTCCATAAGTGGGTGGATGGGTTCCTGAGCTCTCTACTGTTAATAGA ACTTGCTCTCTCGCAGGCCAATGCCTCACCAGGTGATTGAAGCAGAGAAA CTTAGGTGGTGAAAGGAGAAGATGGGGCCTGTCCTGAGAGTTTCTGTTCC TGAGATGCTAGAGGCAGAGGTTTCCAGAACCACAAGACAGACCCAAGAGG GCTGTGTTGGCAAAACAAATGGCAGAGTGGAGCTGGCCAGAGGCATCTGT GCGTGGCGACTCCAAGAGAGCACCCGACTCCAGATGGCGACACTGCAGGA TGGAGCGGGGCATGCCTGCAGACAGGTGTCAGAGACGGGGTCTTGCTGTA TTGCCCAGGCTAGATTTGAACTCCTGGCCTGAAGTAATCCTCCCACCTTG GCCTCCCAAAGTTCTGGGACTACAGACCATTCGTATATATCTTCTTTGGA GAAATGTGTGGTGCAATCTTGGTTCACTGCAACTTCCGCCTCCTGAGTTC CAGCAATTCTCCAGTCTCGGCCTCTCGAGTAGCTGGGATTACAGGCATGT GCCACCATGCCTGGCCATCTTCGCTCTTGAGCACCTGTGTCATGATGGCG TCTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATTTGGCTCACT GTGGCCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAT ACCAGTTCAACTTTTTCAGATTCCACGTGAGGGAGTGACGGGGCAAATCT GCGTGCTGCTGGTGGCGGTGCCTCCCAGGGCTGCTCGGCGGGGACGCCGA GGGCTGCACCCGAGCTCCATCCCGTGTTGGCTGCGCGCCCTCCAAAACCC CGGCTGTCAGCGACTGCGGGCACCTGCACGCCGACGAGACCGGCGGGCGG ACAGCGACTCCGCCCTGAAGGATGGCTGCCATATTGGGAGACACCATCAT GGTGGCTAAAGGCCTTGTCAAGCTGACCCAGGCGGCCGTGGAAACCCACC TGCAGCACTTGGGCATCGGAGGGGAGCTGATCATGGCAGCCAGGGCCCTG CAGTCCACGGCTGTGGAGCAGATTGGCATGTTCTTGGGGAAGGTGCAGGG TCAGGATAAACATGAAGAATATTTTGCTGAGAACTTCGGCGGCCCAGAAG GGGAGTTCCACTTCTCAGTCCCGCATGCAGCCGGAGCCTCCACAGACTTC TCTTCAGCCTCCGCTCCCGACCAGTCAGCGCCCCCATCCCTGGGTCATGC CCACAGCGAGGGCCCAGCTCCTGCCTACGTGGCCAGTGGACCCTTTAGAG AAGCCGGGTTCCCCGGCCAGGCCTCCTCCCCTCTGGGCAGGGCCAACGGG AGGCTCTTTGCAGACCCCAGAGACTCATTCTCTGCTATGGGCTTTCAGCG AAGGTTCTTCCACCAGGACCAATCCCCTGTTGGGGGCCTCACAGCCGAGG ACATTGAGAAGGCCCGGCAGGCTAAGGCTCGCCCCGAGAACAAGCAGCAC AAACAGACGCTCAGCGAGCATGCCCGGGAGCGGAAGGTGCCTGTGACGAG GATTGGCCGGCTGGCCAACTTCGGAGGTCTGGCCGTGGGCCTGGGCTTCG GGGCACTGGCAGAGGTCGCCAAGAAGAGCCTGCGCTCCGAGGACCCCTCA GGGAAGAAGGCCGTGCTGGGTTCCAGTCCTTTCCTGTCCGAGGCCAATGC AGAGCGGATCGTGCGCACGCTCTGCAAGGTGCGTGGTGCGGCACTCAAGC TGGGCCAGATGCTGAGCATCCAGGATGATGCCTTTATCAACCCCCACCTG GCTAAGATCTTCGAGCGGGTGCGGCAGAGCGCGGACTTCATGCCACTGAA GCAGATGATGAAAACTCTCAACAACGACCTGGGCCCCAACTGGCGGGACA AGTTGGAATACTTCGAGGAGCGGCCCTTCGCCGCCGCATCCATTGGGCAG GTGCACTTGGCCCGAATGAAGGGCGGCCGCGAGGTGGCCATGAAGATCCA GTACCCTGGCGTGGCCCAGAGCATCAACAGTGATGTCAACAACCTCATGG CCGTGTTGAACATGAGCAACATGCTTCCAGAAGGCCTGTTCCCCGAGCAC CTGATCGACGTGCTGAGGCGGGAGCTGGCCCTGGAGTGTGACTACCAGCG AGAGGCCGCCTGTGCCCGCAAGTTCAGGGACCTGCTGAAGGGCCACCCCT TCTTCTATGTGCCTGAGATTGTGGATGAGCTCTGCAGCCCACATGTGCTG ACCACAGAGCTGGTGTCTGGCTTCCCCCTGGACCAGGCCGAAGGGCTCAG CCAGGAGATTCGGAACGAGATCTGCTACAACATCCTGGTTCTGTGCCTGA GGGAGCTGTTTGAGTTCCACTTCATGCAAACAGACCCCAACTGGTCCAAC TTCTTCTATGACCCCCAGCAGCACAAGGTGGCTCTTTTGGATTTTGGGGC AACGCGGGAATATGACAGATCCTTCACCGACCTCTACATTCAGATCATCA GGGCTGCTGCCGACAGGGACAGGGAGACTGTGCGGGCGAAATCCATAGAG ATGAAGTTCCTCACCGGCTACGAGGTCAAGGTCATGGAAGACGCCCACTT GGATGCCATCCTCATCCTGGGGGAGGCCTTCGCCTCCGATGAGCCTTTTG ATTTTGGCACTCAGAGCACCACCGAGAAGATCCACAACCTGATTCCCGTC ATGCTGAGGCACCGTCTCGTCCCCCCACCCGAGGAGACCTACTCCCTGCA CAGGAAGATGGGGGGCTCCTTCCTCATCTGCTCCAAGCTGAAGGCCCGCT TCCCCTGCAAGGCCATGTTCGAGGAGGCCTACAGCAACTACTGCAAGAGG CAGGCCCAGCAGTAGGGCTGCGGGCCACGCCCAGGCCGGCTCCGCGGGAA CTCTCTCCCTCAGACAGGCCAAAAACCAGTAGCGAGGTCGTGGTGATGCT CTTTTTAACTCCTTTGCCCAATAAGGGGGGTGGCTGCCTGGAGCCCCGTA GCCAGCGCTTTCCACGGTTTCTGTTGCTAAATGGTTGTAGGGTGAGAAGT GCAAGAATGAAGATGAAGCCCCACTGCTCGGTCAGTCTGCCTCCGTGTGT CCTCTGAAATAAGCAGATGAAGATGAAAGGGCAACTTTGTTTTCTTCTTT TTCCTGATGTGAATGTTAAGCAGAAGGGAGAGAGTCCTTACTCCCTTCCA ATCTCTGTTCAGTGCAAAACCCAGAAACATGAACAGATACGATTGTGGGA TTTTTATCATCTGTGTAGTAGGTGTGTGTATGTGTTTCTAGAGTGAGATT TGTGTTTTCTGCCCTTTTCCTCTCCAGCCGATGGGCTGGAGCTGGGAGAG GTGCTGAGCTAACAGTGCCAACAAGTGCTCCTTAAGCCTGCGAGGCCCAG GCCTGTGGGGCTGGTTCTCACCTTTGACAGCTGAATGTTCCTAAAGAACT GCTGCCCCACAGTGAGGGTGGGAGCAGCGGAACAGGGAATGCCAGACACA GGCTCGCTGCTGCTGGAAGGCGGGGTGGGACTTCCTTCCTCTGTCCGGAG AGGCACAGGTGTCACCAGTTCCAGCCAAAGGCTCCTCACAGGCGCTGTGA ATTTTTGTACAAGTCTTGTAATTATCGAATCAACAACTTGTTTCAATTTA ATAAAAATGCTCATGGGAAGTGCT
Gene structure information
H-Inv cluster ID
HIX0001648
Genomic location
Chromosome
1
Location
1q42.13
Position
227085237- 227175246
Strand
+
Possible duplicated location(s)
NA
Gene structure
20 exon(s)
Database links
RefSeq
NA
Ensembl
NA
Entrez Gene
NA
KEGG GENES
NA
GeneCard
ADCK3
;
*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links
H-DBAS
;
G-integra
;
cDNA-genome alignment
;
Predicted CDS information
HIP ID
HIP000022504
Predicted CDS
2772..4715; 647[aa]; Orientation:+3;
Codon Adaptation Index (CAI).
0.86
MAAILGDTIMVAKGLVKLTQAAVETHLQHLGIGGELIMAARALQSTAVEQ IGMFLGKVQGQDKHEEYFAENFGGPEGEFHFSVPHAAGASTDFSSASAPD QSAPPSLGHAHSEGPAPAYVASGPFREAGFPGQASSPLGRANGRLFADPR DSFSAMGFQRRFFHQDQSPVGGLTAEDIEKARQAKARPENKQHKQTLSEH ARERKVPVTRIGRLANFGGLAVGLGFGALAEVAKKSLRSEDPSGKKAVLG SSPFLSEANAERIVRTLCKVRGAALKLGQMLSIQDDAFINPHLAKIFERV RQSADFMPLKQMMKTLNNDLGPNWRDKLEYFEERPFAAASIGQVHLARMK GGREVAMKIQYPGVAQSINSDVNNLMAVLNMSNMLPEGLFPEHLIDVLRR ELALECDYQREAACARKFRDLLKGHPFFYVPEIVDELCSPHVLTTELVSG FPLDQAEGLSQEIRNEICYNILVLCLRELFEFHFMQTDPNWSNFFYDPQQ HKVALLDFGATREYDRSFTDLYIQIIRAAADRDRETVRAKSIEMKFLTGY EVKVMEDAHLDAILILGEAFASDEPFDFGTQSTTEKIHNLIPVMLRHRLV PPPEETYSLHRKMGGSFLICSKLKARFPCKAMFEEAYSNYCKRQAQQ*
Motif information
a.a.
length
InterPro
Name
50
IPR011009
Protein kinase-like domain [Domain]
115
IPR004147
UbiB domain [Domain]
127
IPR011009
Protein kinase-like domain [Domain]
Gene function information
H-Inv ID
HIT000046339
H-Inv cluster ID
HIX0001648
Accession number
AK126466.1
CAGE tag ID
NA
EST ID
NA
Transcript feature
NO;
Splicing isoform
Coding potential
Protein coding;
Definition
Chaperone activity of bc1 complex-like, mitochondrial; Chaperone-ABC1-like; EC=2.7.11.-; aarF domain-containing protein kinase 3; Precursor;
Similarity category
Category: Identical to known human protein(Category I).
Identical to known human protein (
Q8NI60
) [Identity/coverage = 99.845%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence
Protein evidence
PubMed ID
11888884
;
14702039
;
15489334
;
15498874
;
16710414
;
17344846
;
17974005
;
18319072
;
18319074
;
21269460
;
ALL
;
Gene family/group
H-Inv gene family/group ID
NA
Gene family/group name
NA
Evidence motif (InterPro) ID
NA
Gene symbol/name
HGNC symbol
ADCK3
HGNC aliases
"chaperone-ABC1 (activity of bc1 complex, S.pombe)-like", "chaperone, ABC1 activity of bc1 complex like (S. pombe)", "chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"
HGNC name
aarF domain containing kinase 3
DDBJ
NA
UniProt
ADCK3
EC number
EC 2.7.11.-
Protein-serine/threonine kinases;
GGDB
(GlycoGene Database)
Gene symbol
NA
Familly
NA
Designation
NA
Expression
NA
KEGG metabolic pathway
NA
Protein-protein interaction (PPI)
H-Inv protein ID
HIP000022504
No. of interaction
23
Interaction partner(s)
HIP000021385
;
HIP000023960
;
HIP000026585
;
HIP000026585
;
HIP000036366
;
HIP000048821
;
HIP000053966
;
HIP000054822
;
HIP000058896
;
HIP000059460
;
HIP000074321
;
HIP000075289
;
HIP000076337
;
HIP000084466
;
HIP000096767
;
HIP000097392
;
HIP000100543
;
HIP000114585
;
HIP000116926
;
HIP000138121
;
HIP000249412
;
HIP000335321
;
HIP000435860
;
BIND
NA
DIP
116837E;
MINT
MINT-66678; MINT-8079030;
HPRD
02202; 05375;
IntAct
NA
Database links
RefSeq
NA
Ensembl
NA
Entrez Gene
NA
KEGG GENES
NA
GeneCard
ADCK3
;
*GeneCards is provided free to academic non-profit institutions.
etc
Human-Gene diversity Of Life-style related Diseases
;
Curation status
Auto-annotated
Notes
NA
Related H-InvDB links
Gene family;
Similarity Search Tool;
TACT
;
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome.
FR ID
FR306988
Accession
Description
Location
PMID
Gene ontology information
Molecular function
transferase activity, transferring phosphorus-containing groups (
GO:0016772
);
Subcellular localization information
Last modified:27-May-2015
WoLF PSORT
mitochondria; cytosol; peroxisome; Other;
Target P
Not predicted
SOSUI
soluble protein
TMHMM
soluble protein
PTS1
Not targeted
Related H-InvDB links
LIFEdb;
JRE-1.4.0 or later is required.
Download JRE at
Sun's web site.
Protein structure information (GTOP)
Last modified:27-May-2015
Start
End
PDB_ID
E-value
Identity
Coverage
SCOP_ID
267
323
1y74A1
7e-22
17.5
57/57
a.194.1.1
315
597
1zylA1
3e-14
10.5
277/325
d.144.1.6
Related H-InvDB links
GTOP
Gene expression information
Last modified:27-May-2015
Tissue-specific expression
NA
Probe
information
AceGene
AGhsA241008;
Affymetrix
GeneChip
HG-Focus
NA
HG-U133
218168_s_at; 222542_x_at;
HG-U133A
218168_s_at;
HG-U133A_2
218168_s_at;
HG-U133B
222542_x_at;
HG-U133_Plus_2
218168_s_at; 222542_x_at;
HG-U95
45334_at; 64312_at;
HG-U95A
NA
HG-U95B
45334_at;
HG-U95C
64312_at;
HG-U95D
NA
HG-U95E
NA
HG-U95Av2
NA
HuEx-1_0
2383358; 2383363; 2383364; 2383365; 2383370; 2383378; 2383389; 2383390; 2383391; 2383392; 2383393; 2383394; 2383395; 2383396; 2383404; 2383407; 2383409; 2383411; 2383413; 2383416; 2383419; 2383420; 2383421; 2383422; 2383424; 2383425; 2459040; 3471200; 3661308;
HuGeneFL
NA
Agilent
Human 1A Oligo Microarray:PGID215
A_23_P85593;
Whole Human Genome Oligo Microarray:PGID247
A_23_P85598;
Related H-InvDB links
H-ANGEL
;
DNAProbeLocator
;
Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information
Single Nucleotide Polymorphism (SNP) and indel
Location
Variation
dbSNP ID
Strand
CDS/UTR
Translation
72 .. 72
A/G
rs187646928
+
5'UTR
90 .. 90
T/G
rs1800671
+
5'UTR
143 .. 143
C/T
rs192567835
+
5'UTR
158 .. 158
A/G
rs114893547
+
5'UTR
209 .. 209
C/T
rs115762664
+
5'UTR
210 .. 210
G/A
rs139814638
+
5'UTR
226 .. 226
T/C
rs1800672
+
5'UTR
338 .. 338
G/C
rs16846631
+
5'UTR
375 .. 375
A/-
rs71861771
+
5'UTR
380 .. 380
A/G
rs185108304
+
5'UTR
393 .. 393
G/A
rs190356243
+
5'UTR
410 .. 410
C/T
rs1800673
+
5'UTR
502 .. 502
A/G
rs71648404
+
5'UTR
577 .. 577
A/G
rs192701789
+
5'UTR
588 .. 588
G/A
rs1800674
+
5'UTR
601 .. 601
G/T
rs184715537
+
5'UTR
789 .. 789
G/T
rs142359473
+
5'UTR
865 .. 865
G/A
rs12068726
+
5'UTR
868 .. 868
T/C
rs116594577
+
5'UTR
917 .. 917
T/A
rs151283928
+
5'UTR
959 .. 959
T/C
rs6676065
+
5'UTR
961 .. 961
T/A
rs6676067
+
5'UTR
1040 .. 1040
T/C
rs7530352
+
5'UTR
1100 .. 1100
A/T
rs140488664
+
5'UTR
1118 .. 1118
G/A
rs188684684
+
5'UTR
1155 .. 1155
T/A
rs180759917
+
5'UTR
1164 .. 1164
C/A
rs185373506
+
5'UTR
1171 .. 1171
C/T
rs189394688
+
5'UTR
1173 .. 1173
G/A
rs149996145
+
5'UTR
1191 ^ 1192
-/G
rs35074916
+
5'UTR
1235 .. 1235
C/T
rs146544825
+
5'UTR
1236 .. 1236
G/A
rs181998204
+
5'UTR
1260 .. 1260
G/T
rs141434674
+
5'UTR
1301 .. 1301
G/A
rs201564908
+
5'UTR
1503 .. 1503
T/C
rs145136435
+
5'UTR
1654 .. 1654
G/A
rs186736576
+
5'UTR
1667 .. 1667
A/G
rs138973233
+
5'UTR
1701 .. 1701
C/T
rs2855564
+
5'UTR
1723 .. 1723
A/G
rs6426555
+
5'UTR
1850 .. 1850
A/G
rs192038467
+
5'UTR
1921 .. 1921
A/G
rs183482270
+
5'UTR
1927 .. 1927
C/T
rs186320033
+
5'UTR
2007 .. 2007
G/T
rs16846644
+
5'UTR
2082 .. 2082
G/C
rs180736874
+
5'UTR
2186 .. 2186
C/A
rs138360609
+
5'UTR
2187 .. 2187
G/A
rs12035060
+
5'UTR
2242 .. 2242
C/T
rs149324253
+
5'UTR
2282 .. 2282
C/T
rs182779372
+
5'UTR
2283 .. 2283
G/A
rs187692774
+
5'UTR
2345 .. 2345
G/A
rs193250427
+
5'UTR
2427 .. 2427
T/A
rs72758693
+
5'UTR
2449 .. 2449
C/T
rs145529997
+
5'UTR
2491 .. 2491
T/C
rs185383882
+
5'UTR
2504 .. 2504
G/A
rs113452228
+
5'UTR
2516 .. 2516
C/T
rs189414759
+
5'UTR
2524 .. 2524
A/G
rs148844221
+
5'UTR
2526 .. 2526
C/T
rs142535232
+
5'UTR
2561 .. 2561
C/A
rs182018909
+
5'UTR
2628 .. 2628
G/A
rs12730465
+
5'UTR
2772 .. 2772
A/G
rs199604256
+
CDS
Nonsynonymous[Met1Val]
2782 .. 2782
T/A
rs202075418
+
CDS
Nonsynonymous[Ile4Lys]
2806 .. 2806
C/T
rs200052870
+
CDS
Nonsynonymous[Ala12Val]
2821 .. 2821
A/G
rs150221608
+
CDS
Nonsynonymous[Lys17Arg]
2833 .. 2833
C/T
rs142184584
+
CDS
Nonsynonymous[Ala21Val]
2834 .. 2834
G/A
rs11549709
+
CDS
Synonymous[Ala21Ala]
2838 .. 2838
G/A
rs35582308
+
CDS
Nonsynonymous[Val23Met]
2849 .. 2849
C/T
rs150541057
+
CDS
Synonymous[His26His]
2867 .. 2867
C/T
rs199919057
+
CDS
Synonymous[Ile32Ile]
2871 .. 2871
G/A
rs142125927
+
CDS
Nonsynonymous[Gly34Arg]
2888 .. 2888
A/G
rs11549708
+
CDS
Synonymous[Ala39Ala]
2908 .. 2908
C/T
rs187123516
+
CDS
Nonsynonymous[Thr46Met]
2942 .. 2942
G/C
rs200123840
+
CDS
Nonsynonymous[Lys57Asn]
3002 .. 3002
G/A
rs201037948
+
CDS
Synonymous[Gly77Gly]
3009 .. 3009
C/T
rs76249490
+
CDS
Nonsynonymous[His80Tyr]
3011 .. 3011
C/T
rs113667144
+
CDS
Synonymous[His80His]
3012 .. 3012
T/C
rs200349511
+
CDS
Nonsynonymous[Phe81Leu]
3026 .. 3026
T/G
rs2297411
+
CDS
Nonsynonymous[His85Gln]
3028 .. 3028
C/T
rs150377969
+
CDS
Nonsynonymous[Ala86Val]
3029 .. 3029
A/C
rs137872711
+
CDS
Synonymous[Ala86Ala]
3030 .. 3030
G/A
rs138572539
+
CDS
Nonsynonymous[Ala87Thr]
3034 .. 3034
G/T
rs141687205
+
CDS
Nonsynonymous[Gly88Val]
3062 .. 3062
C/T
rs111529228
+
CDS
Synonymous[Ser97Ser]
3063 .. 3063
G/T
rs200000374
+
CDS
Nonsynonymous[Ala98Ser]
3069 .. 3069
G/T
rs150696959
+
CDS
Nonsynonymous[Asp100Tyr]
3096 .. 3096
C/G
rs201479287
+
CDS
Nonsynonymous[His109Asp]
3106 .. 3106
G/A
rs147889685
+
CDS
Nonsynonymous[Ser112Asn]
3155 .. 3155
C/T
rs139970507
+
CDS
Synonymous[Ala128Ala]
3173 .. 3173
C/T
rs200182503
+
CDS
Synonymous[Ala134Ala]
3238 .. 3238
T/C
rs147812454
+
CDS
Nonsynonymous[Met156Thr]
3243 .. 3243
T/C
rs142652509
+
CDS
Nonsynonymous[Phe158Leu]
3292 .. 3292
C/A
rs181579601
+
CDS
Nonsynonymous[Thr174Lys]
3296 .. 3296
C/T
rs201787750
+
CDS
Synonymous[Ala175Ala]
3335 .. 3335
C/T
rs140897240
+
CDS
Synonymous[Pro188Pro]
3358 .. 3358
C/T
rs200762439
+
CDS
Nonsynonymous[Thr196Met]
3365 .. 3365
C/T
rs138547552
+
CDS
Synonymous[Ser198Ser]
3372 .. 3372
G/T
rs188599627
+
CDS
Nonsynonymous[Ala201Ser]
3376 .. 3376
G/A
rs145350362
+
CDS
Nonsynonymous[Arg202Gln]
3382 .. 3382
G/A
rs200541514
+
CDS
Nonsynonymous[Arg204Gln]
3389 .. 3389
G/A
rs115855910
+
CDS
Synonymous[Val206Val]
3408 .. 3408
C/T
rs119468005
+
CDS
Nonsynonymous[Arg213Trp]
3450 .. 3450
G/A
rs199694417
+
CDS
Nonsynonymous[Gly227Arg]
3494 .. 3494
C/-
rs35757883
+
CDS
3501 .. 3501
G/C
rs199619932
+
CDS
Nonsynonymous[Gly244Arg]
3513 .. 3513
G/A
rs148376283
+
CDS
Nonsynonymous[Val248Met]
3516 .. 3516
C/T
rs199958142
+
CDS
Synonymous[Leu249Leu]
3551 .. 3551
A/G
rs147447166
+
CDS
Synonymous[Ala260Ala]
3556 .. 3556
G/A
rs145422777
+
CDS
Nonsynonymous[Arg262Gln]
3565 .. 3565
G/A
rs199696414
+
CDS
Nonsynonymous[Arg265His]
3568 .. 3568
C/T
rs149924675
+
CDS
Nonsynonymous[Thr266Met]
3582 .. 3582
C/T
rs145034527
+
CDS
Nonsynonymous[Arg271Cys]
3586 .. 3586
G/A/T
rs119468006
+
CDS
3625 .. 3625
A/C
rs143493998
+
CDS
Nonsynonymous[Asp285Ala]
3644 .. 3644
C/T
rs200849486
+
CDS
Synonymous[Pro291Pro]
3647 .. 3647
C/G
rs200155917
+
CDS
Nonsynonymous[His292Gln]
3662 .. 3662
C/T
rs55968053
+
CDS
Synonymous[Phe297Phe]
3666 .. 3666
C/T
rs201908721
+
CDS
Nonsynonymous[Arg299Trp]
3672 .. 3672
C/T
rs140246430
+
CDS
Nonsynonymous[Arg301Trp]
3680 .. 3680
C/T
rs202036077
+
CDS
Synonymous[Ser303Ser]
3719 .. 3719
C/T
rs55637780
+
CDS
Synonymous[Leu316Leu]
3760 .. 3760
A/G
rs150243147
+
CDS
Nonsynonymous[Tyr330Cys]
3762 .. 3762
T/C
rs201334858
+
CDS
Nonsynonymous[Phe331Leu]
3764 .. 3764
C/T
rs41303129
+
CDS
Synonymous[Phe331Phe]
3780 .. 3780
G/A
rs143816043
+
CDS
Nonsynonymous[Ala337Thr]
3782 .. 3782
C/T
rs36006006
+
CDS
Synonymous[Ala337Ala]
3791 .. 3791
C/T
rs181558991
+
CDS
Synonymous[Ser340Ser]
3793 .. 3793
T/C
rs55798516
+
CDS
Nonsynonymous[Ile341Thr]
3824 .. 3824
C/T
rs55958233
+
CDS
Synonymous[Gly351Gly]
3860 .. 3860
C/T
rs139570869
+
CDS
Synonymous[Gly363Gly]
3879 .. 3879
A/G
rs180784380
+
CDS
Nonsynonymous[Ser370Gly]
3891 .. 3891
A/C
rs146751657
+
CDS
Nonsynonymous[Asn374His]
3956 .. 3956
C/T
rs17849927
+
CDS
Synonymous[Ile395Ile]
3959 .. 3959
C/T
rs139133094
+
CDS
Synonymous[Asp396Asp]
3964 .. 3964
T/C
rs199921339
+
CDS
Nonsynonymous[Leu398Pro]
3986 .. 3986
G/A
rs149048093
+
CDS
Synonymous[Glu405Glu]
4017 .. 4017
C/T
rs151292389
+
CDS
Nonsynonymous[Arg416Cys]
4022 .. 4022
G/A
rs202227926
+
CDS
Synonymous[Lys417Lys]
4029 .. 4029
G/A
rs147097934
+
CDS
Nonsynonymous[Asp420Asn]
4035 .. 4035
C/T
rs200375779
+
CDS
Synonymous[Leu422Leu]
4057 .. 4057
A/G
rs144147839
+
CDS
Nonsynonymous[Tyr429Cys]
4103 .. 4103
C/T
rs138727410
+
CDS
Synonymous[Thr444Thr]
4149 .. 4149
A/G
rs149364914
+
CDS
Nonsynonymous[Ser460Gly]
4161 .. 4161
C/T
rs139900636
+
CDS
Nonsynonymous[Arg464Trp]
4167 .. 4167
G/A
rs201134290
+
CDS
Nonsynonymous[Glu466Lys]
4180 .. 4180
A/G
rs200800365
+
CDS
Nonsynonymous[Asn470Ser]
4193 .. 4193
G/A
rs202132812
+
CDS
Synonymous[Leu474Leu]
4201 .. 4201
G/-
rs34158214
+
CDS
4211 .. 4211
T/C
rs12593
-
CDS
Synonymous[Phe480Phe]
4250 .. 4250
C/A
rs150918577
+
CDS
Nonsynonymous[Asn493Lys]
4304 .. 4304
G/A
rs201337210
+
CDS
Synonymous[Thr511Thr]
4305 .. 4305
C/T
rs149682899
+
CDS
Nonsynonymous[Arg512Trp]
4306 .. 4306
G/A
rs200115323
+
CDS
Nonsynonymous[Arg512Gln]
4312 .. 4312
A/G
rs119468008
+
CDS
Nonsynonymous[Tyr514Cys]
4327 .. 4327
C/G
rs141260985
+
CDS
Nonsynonymous[Thr519Ser]
4338 .. 4338
A/G
rs147730489
+
CDS
Nonsynonymous[Ile523Val]
4362 .. 4362
G/A
rs200930703
+
CDS
Nonsynonymous[Asp531Asn]
4376 .. 4376
G/C
rs201158713
+
CDS
Nonsynonymous[Glu535Asp]
4377 .. 4377
A/G
rs200403220
+
CDS
Nonsynonymous[Thr536Ala]
4381 .. 4381
T/G
rs199724504
+
CDS
Nonsynonymous[Val537Gly]
4383 .. 4383
C/T
rs201331131
+
CDS
Nonsynonymous[Arg538Trp]
4388 .. 4388
G/A
rs142600066
+
CDS
Synonymous[Ala539Ala]
4415 .. 4415
C/T
rs141423403
+
CDS
Synonymous[Thr548Thr]
4416 .. 4416
G/A
rs119468009
+
CDS
Nonsynonymous[Gly549Ser]
4422 .. 4422
G/A
rs119468004
+
CDS
Nonsynonymous[Glu551Lys]
4436 .. 4436
G/A
rs199874519
+
CDS
Nonsynonymous[Met555Ile]
4443 .. 4443
G/A
rs142894121
+
CDS
Nonsynonymous[Ala558Thr]
4448 .. 4448
C/G
rs200963031
+
CDS
Nonsynonymous[His559Gln]
4481 .. 4481
C/T
rs139305619
+
CDS
Synonymous[Phe570Phe]
4487 .. 4487
C/T
rs3738725
+
CDS
Synonymous[Ser572Ser]
4491 .. 4491
G/A
rs202058665
+
CDS
Nonsynonymous[Glu574Lys]
4510 .. 4510
C/T
rs199581236
+
CDS
Nonsynonymous[Thr580Ile]
4523 .. 4523
C/T
rs201865243
+
CDS
Synonymous[Thr584Thr]
4526 .. 4526
G/C
rs201171077
+
CDS
Nonsynonymous[Glu585Asp]
4528 .. 4528
A/G
rs113308613
+
CDS
Nonsynonymous[Lys586Arg]
4536 .. 4536
A/C
rs142051104
+
CDS
Nonsynonymous[Asn589His]
4547 .. 4547
C/T
rs7545723
+
CDS
Synonymous[Pro592Pro]
4568 .. 4568
C/T
rs139551241
+
CDS
Synonymous[Leu599Leu]
4571 .. 4571
C/G
rs74589348
+
CDS
Synonymous[Val600Val]
4576 .. 4576
C/A/G
rs61995958
+
CDS
4587 .. 4587
A/C
rs143650593
+
CDS
Nonsynonymous[Thr606Pro]
4592 .. 4592
C/T
rs201618750
+
CDS
Synonymous[Tyr607Tyr]
4595 .. 4595
C/T
rs141270350
+
CDS
Synonymous[Ser608Ser]
4637 .. 4637
G/A
rs191944347
+
CDS
Synonymous[Lys622Lys]
4647 .. 4647
C/T
rs141725964
+
CDS
Nonsynonymous[Arg626Cys]
4670 .. 4670
C/T
rs150569155
+
CDS
Synonymous[Phe633Phe]
4671 .. 4671
G/A
rs149335528
+
CDS
Nonsynonymous[Glu634Lys]
4685 .. 4685
C/T
rs56043893
+
CDS
Synonymous[Ser638Ser]
4724 .. 4724
G/A
rs200743857
+
3'UTR
4848 .. 4848
G/A
rs149820067
+
3'UTR
4945 .. 4945
G/A
rs117808661
+
3'UTR
4949 .. 4949
G/A
rs188462608
+
3'UTR
5064 .. 5064
G/A
rs113041399
+
3'UTR
5099 .. 5099
G/A
rs113631619
+
3'UTR
5100 .. 5100
A/T
rs112529851
+
3'UTR
5105 ^ 5106
-/T
rs199664948
+
3'UTR
5159 .. 5159
C/G
rs12567953
+
3'UTR
5180 .. 5180
G/A
rs8159
-
3'UTR
5225 .. 5225
G/A
rs142056615
+
3'UTR
5359 .. 5359
G/A
rs115542970
+
3'UTR
5372 .. 5372
G/A
rs181352749
+
3'UTR
5397 .. 5397
G/A
rs10482
-
3'UTR
5443 .. 5443
C/T
rs16846762
+
3'UTR
5477 .. 5477
G/A
rs145779574
+
3'UTR
5506 .. 5506
A/G
rs12565212
+
3'UTR
5523 ^ 5524
-/T
rs140711993
+
3'UTR
Microsatellite (Short Tandem Repeat, STR)
No data available
Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
Repeat
Type
Start
End
Strand
L1ME3Cz
89
270
-
L1ME3Cz
297
419
-
AluSq2
420
719
-
L1ME3Cz
720
839
-
L1ME3Cz
883
1090
-
AluY
1091
1378
-
L1ME3Cz
1379
1894
-
AluJr
2181
2277
-
AluSx
2308
2474
-
AluSq2
2475
2548
-
Database links
Human-Gene diversity Of Life-style related Diseases(H-GOLD)
;
Related H-InvDB links
VaryGene
;
Repeat Mask Viewer
;