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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000497988 Accession number: AK303364 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Dysferlin isoform 10.
 
 

Transcript original information
Accession number AK303364.1
CAGE tag ID NA
EST ID NA
Clone Number THYMU3011001
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (DYSF) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (DYSF);
Sequence data provider NA
Annotation project NA
Length of cDNA 2869[bp] (No. of exon:22)[A:658 T:606 G:780 C:825]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type thymus
Develpmental stage NA
Mini-G
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) CAGGAG; 
Transcript quality feature Truncation; 
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0002152
Genomic location  G-integra Help Chromosome 2
Location 2p13.2
Position 71828402- 71913801
Strand +
Possible duplicated location(s) NA
Gene structure 22 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:8291
KEGG GENES KEGG GENES(8291)
GeneCard GeneCardDYSF*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links H-DBASH-DBAS;  G-integraG-integra cDNA-genome alignmentcDNA-genome alignment

Predicted CDS information
HIP ID HIP000256624
Predicted CDS 156..2690;  844[aa];  Orientation:+3; 
Codon Adaptation Index (CAI). 0.839

Motif information
ORF

length(844),orf(156:2690)
MSVMRVMGALGDKHMTRALFSSLQPAIHHIPGFEVQETSRILDESEDTDL
PYPPPQREANIYMVPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSL
VVECGGQTVQSCVIRNLRKNPNFDICTLFMEVMLPREELYCPPITVKVID
NRQFGRRPVVGQCTIRSLESFLCDPYSAESPSPQGGPDDVSLLSPGEDVL
IDIDDKEPLIPIQLADGLSSLAPTNTASPPSSPHEEEFIDWWSKFFASIG
EREKCGSYLEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEET
EDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVR
AFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCT
LPLEKDLKITLYDYDLLSKDEKIGETVVDLENRLLSKFGARCGLPQTYCV
SGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTDRVMFQDKEYSIEEIEAG
RIPNPHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPDIEQGKLQMW
VDLFPKALGRPGPPFNITPRRARRFFLRCIIWNTRDVILDDLSLTGEKMS
DIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYLPAEQVCAI
AKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPA
KTAKKCSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVAEEGEKKILAGKLE
MTLEIVAESEHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMK
FILWRRFRWAIILFIILFILLLFLAIFIYAFPNYAAMKLVKPFS*
a.a.
length
InterPro Name
length(120), motif(56:175) 120 IPR000008 C2 domain [Domain]
length(88), motif(79:166) 88 IPR000008 C2 domain [Domain]
length(100), motif(81:180) 100 IPR000008 C2 domain [Domain]
length(82), motif(83:164) 82 IPR000008 C2 domain [Domain]
length(120), motif(327:446) 120 IPR000008 C2 domain [Domain]
length(99), motif(329:427) 99 IPR000008 C2 domain [Domain]
length(107), motif(334:440) 107 IPR000008 C2 domain [Domain]
length(100), motif(343:442) 100 IPR000008 C2 domain [Domain]
length(82), motif(345:426) 82 IPR000008 C2 domain [Domain]
length(25), motif(530:554) 25 IPR000008 C2 domain [Domain]
length(158), motif(544:701) 158 IPR000008 C2 domain [Domain]
length(197), motif(560:756) 197 IPR000008 C2 domain [Domain]
length(130), motif(576:705) 130 IPR000008 C2 domain [Domain]
length(45), motif(597:641) 45 IPR000008 C2 domain [Domain]
length(22), motif(668:689) 22 IPR000008 C2 domain [Domain]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000497988
H-Inv cluster ID Locus viewHIX0002152
Accession number AK303364.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition Similar to Dysferlin isoform 10.
Similarity category  Help Category: Similar to known protein(Category II).
Similar to known protein (NP_001124449)  [Identity/coverage = 98.321%/39.96%] to Homo sapiens protein.
Experimental evidence Protein evidence
PubMed ID NA
Gene family/group Gene family H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol DYSF
HGNC aliases "limb girdle muscular dystrophy 2B (autosomal recessive)"
HGNC name dysferlin
DDBJ NA
UniProt NA
EC number NA
GGDB
(GlycoGene Database)
Gene symbol NA
Familly NA
Designation NA
Expression NA
KEGG metabolic pathway NA
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000256624
No. of interaction 4
Interaction partner(s) HIP000063176HIP000152936HIP000357283HIP000357401
BIND NA
DIP NA
MINT NA
HPRD NA
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:8291
KEGG GENES KEGG GENES(8291)
GeneCard GeneCardDYSF*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Curation status Auto-annotated
Notes NA
Related H-InvDB links Gene familyGene family;  Similarity Search ToolSimilarity Search Tool;  TACTTACT
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome. 
NA

Gene ontology information
Molecular function protein binding (GO:0005515); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT cytosol;  nuclear;  peroxisome;  Other; 
Target P Not predicted
SOSUI membrane protein
TMHMM membrane protein
PTS1 Not targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Protein structure information (GTOP) GTOP Last modified:27-May-2015
Start End PDB_ID E-value Identity Coverage SCOP_ID
96 165 2ep6A1 4e-04 18.6 63/126 b.7.1.1
321 431 1do6A 2e-15 10.1 109/124 b.1.13.1
577 698 1a25A 6e-08 18.9 96/132 b.7.1.2
Related H-InvDB links GTOP GTOP

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: Miyoshi myopathy (254130);  Disease name: Muscular dystrophy, limb-girdle, type 2B (253601);  Disease name: Myopathy, distal, with anterior tibial onset (606768); 
Related information in OMIM OMIM ID:  603009;  Title: DYSFERLIN
Co-localized orphan diseases NA
Disease related mutation MutationView:  603009
JRE-1.4.0 or later is required.Download JRE at Sun's web site.
Literature-Extracted GENe-Disease Associations (LEGENDA) LEGENDA Gene name Entrez Gene ID:(8291)
Disease Entrez Gene ID:(8291)
Substance Entrez Gene ID:(8291)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo ViewerLEGENDALEGENDA

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
22 .. 22 T/A rs2303604 + 5'UTR
98 .. 98 T/C rs112237813 + 5'UTR
150 .. 150 T/G rs141740044 + 5'UTR
176 .. 176 G/T rs150549936 + CDS Nonsynonymous[Met7Ile]
237 .. 237 C/T rs202061751 + CDS Nonsynonymous[His28Tyr]
276 .. 276 A/G rs121908954 + CDS Nonsynonymous[Ile41Val]
284 .. 284 T/A rs201998440 + CDS Nonsynonymous[Asp43Glu]
298 .. 298 C/A rs116426399 + CDS Nonsynonymous[Thr48Lys]
300 .. 300 G/A rs149023297 + CDS Nonsynonymous[Asp49Asn]
335 .. 335 C/T rs201966225 + CDS Synonymous[Asn60Asn]
351 .. 351 C/G rs147950418 + CDS Nonsynonymous[Gln66Glu]
356 .. 356 C/T rs11558179 - CDS Synonymous[Asn67Asn]
357 .. 357 A/G rs145401010 + CDS Nonsynonymous[Ile68Val]
367 .. 367 C/T rs201476613 + CDS Nonsynonymous[Ala71Val]
376 .. 376 G/T rs61742872 + CDS Nonsynonymous[Arg74Leu]
380 .. 380 C/T rs138751942 + CDS Synonymous[Thr75Thr]
384 .. 384 A/G rs146242836 + CDS Nonsynonymous[Ile77Val]
392 .. 392 C/A rs2303606 + CDS Synonymous[Ile79Ile]
408 .. 408 C/T rs199870606 + CDS Nonsynonymous[Arg85Trp]
436 .. 436 A/G rs139529811 + CDS Nonsynonymous[Asn94Ser]
452 .. 452 C/T rs2303607 + CDS Synonymous[Ser99Ser]
473 .. 473 C/T rs145412880 + CDS Synonymous[Gly106Gly]
478 .. 478 C/T rs149182447 + CDS Nonsynonymous[Thr108Met]
582 .. 582 C/G/T rs151268930 + CDS
583 .. 583 C/G rs138268837 + CDS Nonsynonymous[Pro143Arg]
584 .. 584 C/T rs142769942 + CDS Synonymous[Pro143Pro]
609 .. 609 C/T rs138097846 + CDS Nonsynonymous[Arg152Cys]
671 .. 671 G/A rs144072850 + CDS Synonymous[Leu172Leu]
679 .. 679 C/A rs142776870 + CDS Nonsynonymous[Pro175His]
685 .. 685 C/T rs139411595 + CDS Nonsynonymous[Ser177Leu]
702 .. 702 C/T rs151109021 + CDS Nonsynonymous[Pro183Ser]
707 .. 707 G/A rs76576806 + CDS Synonymous[Gln184Gln]
719 .. 719 C/T rs61746816 + CDS Synonymous[Asp188Asp]
758 .. 758 C/T rs145690047 + CDS Synonymous[Ile201Ile]
760 .. 760 A/G rs61738567 + CDS Nonsynonymous[Asp202Gly]
872 .. 872 C/T rs148055736 + CDS Synonymous[Ile239Ile]
927 .. 927 T/C rs150139276 + CDS Nonsynonymous[Tyr258His]
938 .. 938 G/T rs182185801 + CDS Nonsynonymous[Lys261Asn]
949 .. 949 C/A rs200809348 + CDS Nonsynonymous[Thr265Asn]
951 .. 951 C/T rs7573406 + CDS Synonymous[Leu266Leu]
956 .. 956 G/A rs199861501 + CDS Synonymous[Lys267Lys]
957 .. 957 G/A rs143895253 + CDS Nonsynonymous[Val268Ile]
959 .. 959 C/G rs142483266 + CDS Synonymous[Val268Val]
1003 .. 1003 C/A rs201226634 + CDS Nonsynonymous[Ser283Tyr]
1024 .. 1024 A/C rs76086153 + CDS Nonsynonymous[Lys290Thr]
1033 .. 1033 G/A rs191383034 + CDS Nonsynonymous[Arg293Gln]
1042 .. 1042 C/T rs144422408 + CDS Nonsynonymous[Thr296Met]
1110 .. 1110 C/T rs149768871 + CDS Nonsynonymous[Pro319Ser]
1122 .. 1122 G/A rs146213322 + CDS Nonsynonymous[Ala323Thr]
1161 .. 1161 G/A rs143163327 + CDS Nonsynonymous[Ala336Thr]
1178 .. 1178 G/A rs62145939 + CDS Synonymous[Glu341Glu]
1189 .. 1189 G/A rs185596534 + CDS Nonsynonymous[Arg345His]
1241 .. 1241 G/T rs141704244 + CDS Nonsynonymous[Lys362Asn]
1266 .. 1266 A/G rs138357301 + CDS Nonsynonymous[Ile371Val]
1267 .. 1267 T/C rs146384562 + CDS Nonsynonymous[Ile371Thr]
1304 .. 1304 C/A rs113744167 + CDS Synonymous[Ile383Ile]
1312 .. 1312 C/T rs144383140 + CDS Nonsynonymous[Thr386Met]
1313 .. 1313 G/T rs142301132 + CDS Synonymous[Thr386Thr]
1323 .. 1323 G/A rs147056383 + CDS Nonsynonymous[Val390Ile]
1340 .. 1340 C/T rs151276652 + CDS Synonymous[Phe395Phe]
1352 .. 1352 C/T rs149989207 + CDS Synonymous[Cys399Cys]
1388 .. 1388 C/A rs141476432 + CDS Synonymous[Leu411Leu]
1424 .. 1424 C/T rs149087116 + CDS Synonymous[Ile423Ile]
1432 .. 1432 C/T rs143059463 + CDS Nonsynonymous[Thr426Met]
1473 .. 1473 G/T rs141137410 + CDS Nonsynonymous[Ala440Ser]
1477 .. 1477 G/A rs138472236 + CDS Nonsynonymous[Arg441His]
1510 .. 1510 G/C rs146153532 + CDS Nonsynonymous[Gly452Ala]
1546 .. 1546 A/T rs149408006 + CDS Nonsynonymous[Gln464Leu]
1551 .. 1551 C/G rs11558178 - CDS Nonsynonymous[Leu466Val]
1566 .. 1566 C/G rs199827126 + CDS Nonsynonymous[Gln471Glu]
1596 .. 1596 C/T rs148541407 + CDS Nonsynonymous[Arg481Trp]
1606 .. 1606 G/A rs147678255 + CDS Nonsynonymous[Arg484His]
1648 .. 1648 A/G rs121908961 + CDS Nonsynonymous[Glu498Gly]
1663 .. 1663 C/A rs145272777 + CDS Nonsynonymous[Pro503Gln]
1691 .. 1691 G/A rs140812535 + CDS Synonymous[Glu512Glu]
1750 .. 1750 G/A rs148860301 + CDS Nonsynonymous[Arg532Gln]
1754 .. 1754 C/T rs137855767 + CDS Synonymous[Pro533Pro]
1763 .. 1763 C/T rs200879908 + CDS Synonymous[Ser536Ser]
1808 .. 1808 C/T rs145143725 + CDS Synonymous[Val551Val]
1818 .. 1818 C/T rs145832952 + CDS Nonsynonymous[Pro555Ser]
1828 .. 1828 T/C rs148382335 + CDS Nonsynonymous[Leu558Pro]
1833 .. 1833 C/T rs139879284 + CDS Nonsynonymous[Arg560Trp]
1939 .. 1939 C/T rs199649417 + CDS Nonsynonymous[Thr595Met]
1944 .. 1944 G/A rs201592500 + CDS Nonsynonymous[Glu597Lys]
1960 .. 1960 T/C rs191052325 + CDS Nonsynonymous[Ile602Thr]
2017 .. 2017 A/G rs199601326 + CDS Nonsynonymous[His621Arg]
2023 .. 2023 G/A rs143939123 + CDS Nonsynonymous[Arg623His]
2073 .. 2073 G/A rs115013641 + CDS Nonsynonymous[Asp640Asn]
2160 .. 2160 C/T rs121908959 + CDS AA-STOP[Arg669*]
2238 .. 2238 C/T rs144116735 + CDS Nonsynonymous[Arg695Cys]
2275 .. 2275 C/G rs142160134 + CDS Nonsynonymous[Ser707Cys]
2276 .. 2276 C/G rs140341988 + CDS Synonymous[Ser707Ser]
2306 .. 2306 C/A/T rs17718530 + CDS
2329 .. 2329 A/G rs11558176 - CDS Nonsynonymous[Glu725Gly]
2365 .. 2365 C/T rs201784424 + CDS Nonsynonymous[Ala737Val]
2393 .. 2393 G/A rs138936064 + CDS Synonymous[Ala746Ala]
2412 .. 2412 T/C rs188223743 + CDS Synonymous[Leu753Leu]
2430 .. 2430 A/C rs201890095 + CDS Nonsynonymous[Ser759Arg]
2445 .. 2445 C/T rs149357145 + CDS Nonsynonymous[Arg764Trp]
2446 .. 2446 G/A rs115407852 + CDS Nonsynonymous[Arg764Gln]
2463 .. 2463 C/T rs200921075 + CDS Nonsynonymous[Arg770Trp]
2484 .. 2484 C/A rs11558177 - CDS Nonsynonymous[Pro777Thr]
2504 .. 2504 G/A rs143762717 + CDS Synonymous[Arg783Arg]
2510 .. 2510 C/T rs147263499 + CDS Synonymous[Pro785Pro]
2519 .. 2519 C/A rs200994941 + CDS Synonymous[Ser788Ser]
2568 .. 2568 C/T rs200990851 + CDS Nonsynonymous[Arg805Trp]
2571 .. 2571 C/T rs121908955 + CDS Nonsynonymous[Arg806Cys]
2577 .. 2577 C/T rs185617318 + CDS Nonsynonymous[Arg808Trp]
2586 .. 2586 A/G rs150834671 + CDS Nonsynonymous[Ile811Val]
2613 .. 2613 C/T rs201725164 + CDS Synonymous[Leu820Leu]
2650 .. 2650 C/T rs149732545 + CDS Nonsynonymous[Pro832Leu]
2651 .. 2651 G/A rs139267208 + CDS Synonymous[Pro832Pro]
2717 .. 2717 C/T rs199573560 + 3'UTR
2743 .. 2743 G/A rs114777968 + 3'UTR
2785 .. 2785 C/A rs1802426 + 3'UTR
2797 .. 2797 T/A rs11903223 + 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  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer