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AS locus structure map

HIX0006573: Major intrinsic protein family protein.
Chromosome: 7 Position: 30737601..30965131 (227.5Kbp) Strand: + Number of RASVs: 9
ORF: Full-length Truncated NMD UTR
Splice-site: GT-AG GC-AG AT-AC Other NAGNAG
AS: AS exon AS junction Polymorphism: SNP

Locus and transcript information


AS locus
Hyperlink management Corresponding other species locus
HIX0006573 06-0001100 (mouse_mrna)
HIX0006573 06-0001108 (mouse_mrna)
HIX0006573 04-0001256 (rat_rna)
HIX0006573 07-0000176 (chimpanzee_rna)
HIX0006573 03-0000130 (macaque_rna)
HIX0006573 03-0000600 (macaque_rna)

RASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000070598 INMT 604854 Indolethylamine N-methyltransferase (EC 2.1.1.49) (Aromatic alkylamine N-methyltransferase) (Indolamine N-methyltransferase) (Arylamine N- methyltransferase) (Amine N-methyltransferase).
HIT000097536 FAM188B Testis Conserved hypothetical protein.
HIT000015693 FAM188B amygdala Conserved hypothetical protein.
HIT000039575 AQP1 110450 Brain, hypothalamus Aquaporin-1 (AQP-1) (Aquaporin-CHIP) (Water channel protein for red blood cells and kidney proximal tubule) (Urine water channel).
HIT000048431 FAM188B trachea Conserved hypothetical protein.
HIT000219769 AQP1 110450 retinal pigment epithelium fetus male Aquaporin-1 (AQP-1) (Aquaporin-CHIP) (Water channel protein for red blood cells and kidney proximal tubule) (Urine water channel).
HIT000296455 AQP1 110450 Placenta Cot 25-normalized Aquaporin-1 (AQP-1) (Aquaporin-CHIP) (Water channel protein for red blood cells and kidney proximal tubule) (Urine water channel).
HIT000337323 INMT 604854 Chondrosarcoma Lung Metastasis Similar to Indolethylamine N-methyltransferase (EC 2.1.1.49) (Aromatic alkylamine N-methyltransferase) (Indolamine N-methyltransferase) (Arylamine N- methyltransferase) (Amine N-methyltransferase).
HIT000427628 FAM188B amygdala Similar to Indolethylamine N-methyltransferase (EC 2.1.1.49) (Aromatic alkylamine N-methyltransferase) (Indolamine N-methyltransferase) (Arylamine N- methyltransferase) (Amine N-methyltransferase).

Other ASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000070597 INMT 604854 Indolethylamine N-methyltransferase (EC 2.1.1.49) (Aromatic alkylamine N-methyltransferase) (Indolamine N-methyltransferase) (Arylamine N- methyltransferase) (Amine N-methyltransferase).
HIT000093233 INMT 604854 Lung, Spleen, fetal, pooled Similar to Indolethylamine N-methyltransferase (EC 2.1.1.49) (Aromatic alkylamine N-methyltransferase) (Indolamine N-methyltransferase) (Arylamine N- methyltransferase) (Amine N-methyltransferase).
HIT000336020 FAM188B Chondrosarcoma Lung Metastasis Conserved hypothetical protein.
HIT000243767 FAM188B brain Conserved hypothetical protein.

RefSeq
ID Definition
NM_006774 Homo sapiens indolethylamine N-methyltransferase (INMT), mRNA.
NM_198098 Homo sapiens aquaporin 1 (Colton blood group) (AQP1), mRNA.
NM_032222 Homo sapiens chromosome 7 open reading frame 67 (C7orf67), mRNA.

Ensembl
ID Definition
ENST00000013222 Indolethylamine N-methyltransferase (Indolamine N- methyltransferase)(EC 2.1.1.49)(Aromatic alkylamine N- methyltransferase)(Arylamine N-methyltransferase)(Amine N- methyltransferase) [Source:UniProtKB/Swiss- Prot;Acc:O95050]
ENST00000311813 Indolethylamine N-methyltransferase (Indolamine N- methyltransferase)(EC 2.1.1.49)(Aromatic alkylamine N- methyltransferase)(Arylamine N-methyltransferase)(Amine N- methyltransferase) [Source:UniProtKB/Swiss- Prot;Acc:O95050]
ENST00000265298 Indolethylamine N-methyltransferase (Indolamine N- methyltransferase)(EC 2.1.1.49)(Aromatic alkylamine N- methyltransferase)(Arylamine N-methyltransferase)(Amine N- methyltransferase) [Source:UniProtKB/Swiss- Prot;Acc:O95050]
ENST00000265299 Indolethylamine N-methyltransferase (Indolamine N- methyltransferase)(EC 2.1.1.49)(Aromatic alkylamine N- methyltransferase)(Arylamine N-methyltransferase)(Amine N- methyltransferase) [Source:UniProtKB/Swiss- Prot;Acc:O95050]
ENST00000381693 Indolethylamine N-methyltransferase (Indolamine N- methyltransferase)(EC 2.1.1.49)(Aromatic alkylamine N- methyltransferase)(Arylamine N-methyltransferase)(Amine N- methyltransferase) [Source:UniProtKB/Swiss- Prot;Acc:O95050]
ENST00000409539 Indolethylamine N-methyltransferase (Indolamine N- methyltransferase)(EC 2.1.1.49)(Aromatic alkylamine N- methyltransferase)(Arylamine N-methyltransferase)(Amine N- methyltransferase) [Source:UniProtKB/Swiss- Prot;Acc:O95050]
ENST00000409611 Indolethylamine N-methyltransferase (Indolamine N- methyltransferase)(EC 2.1.1.49)(Aromatic alkylamine N- methyltransferase)(Arylamine N-methyltransferase)(Amine N- methyltransferase) [Source:UniProtKB/Swiss- Prot;Acc:O95050]
ENST00000409881 Indolethylamine N-methyltransferase (Indolamine N- methyltransferase)(EC 2.1.1.49)(Aromatic alkylamine N- methyltransferase)(Arylamine N-methyltransferase)(Amine N- methyltransferase) [Source:UniProtKB/Swiss- Prot;Acc:O95050]
ENST00000409899 Indolethylamine N-methyltransferase (Indolamine N- methyltransferase)(EC 2.1.1.49)(Aromatic alkylamine N- methyltransferase)(Arylamine N-methyltransferase)(Amine N- methyltransferase) [Source:UniProtKB/Swiss- Prot;Acc:O95050]
ENST00000413400 Indolethylamine N-methyltransferase (Indolamine N- methyltransferase)(EC 2.1.1.49)(Aromatic alkylamine N- methyltransferase)(Arylamine N-methyltransferase)(Amine N- methyltransferase) [Source:UniProtKB/Swiss- Prot;Acc:O95050]
ENST00000425612 Indolethylamine N-methyltransferase (Indolamine N- methyltransferase)(EC 2.1.1.49)(Aromatic alkylamine N- methyltransferase)(Arylamine N-methyltransferase)(Amine N- methyltransferase) [Source:UniProtKB/Swiss- Prot;Acc:O95050]
ENST00000434909 Indolethylamine N-methyltransferase (Indolamine N- methyltransferase)(EC 2.1.1.49)(Aromatic alkylamine N- methyltransferase)(Arylamine N-methyltransferase)(Amine N- methyltransferase) [Source:UniProtKB/Swiss- Prot;Acc:O95050]
ENST00000441328 Indolethylamine N-methyltransferase (Indolamine N- methyltransferase)(EC 2.1.1.49)(Aromatic alkylamine N- methyltransferase)(Arylamine N-methyltransferase)(Amine N- methyltransferase) [Source:UniProtKB/Swiss- Prot;Acc:O95050]
ENST00000451002 Indolethylamine N-methyltransferase (Indolamine N- methyltransferase)(EC 2.1.1.49)(Aromatic alkylamine N- methyltransferase)(Arylamine N-methyltransferase)(Amine N- methyltransferase) [Source:UniProtKB/Swiss- Prot;Acc:O95050]
ENST00000458257 Indolethylamine N-methyltransferase (Indolamine N- methyltransferase)(EC 2.1.1.49)(Aromatic alkylamine N- methyltransferase)(Arylamine N-methyltransferase)(Amine N- methyltransferase) [Source:UniProtKB/Swiss- Prot;Acc:O95050]
 
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