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AS locus structure map

HIX0015230: TFIIH basal transcription factor complex helicase subunit (EC 3.6.1.-) (DNA-repair protein complementing XP-D cells) (Xeroderma pigmentosum group D-complementing protein) (CXPD) (DNA excision repair protein ERCC-2).
Chromosome: 19 Position: 45853128..45874176 (21.0Kbp) Strand: - Number of RASVs: 5
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
HIX0015230 07-0000606 (mouse_mrna)
HIX0015230 07-0001734 (mouse_mrna) low priority
HIX0015230 19-0000750 (chimpanzee_rna)
HIX0015230 19-0000096 (macaque_rna)
HIX0015230 01-0000031 (dog_rna)

RASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000017739 ERCC2 610756 spleen Similar to TFIIH basal transcription factor complex helicase subunit (EC 3.6.1.-) (DNA-repair protein complementing XP-D cells) (Xeroderma pigmentosum group D-complementing protein) (CXPD) (DNA excision repair protein ERCC-2).
HIT000050120 ERCC2 610756 thymus Similar to TFIIH basal transcription factor complex helicase subunit (EC 3.6.1.-) (DNA-repair protein complementing XP-D cells) (Xeroderma pigmentosum group D-complementing protein) (CXPD) (DNA excision repair protein ERCC-2).
HIT000321738 ERCC2 610756 fibroblast adult Conserved hypothetical protein.
HIT000339586 ERCC2 610756 PCR rescued clones Similar to TFIIH basal transcription factor complex helicase subunit (EC 3.6.1.-) (DNA-repair protein complementing XP-D cells) (Xeroderma pigmentosum group D-complementing protein) (CXPD) (DNA excision repair protein ERCC-2).
HIT000339587 ERCC2 610756 PCR rescued clones DNA helicase (DNA repair), Rad3 type family protein.

Other ASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition

RefSeq
ID Definition
NM_000400 Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA.
NM_001130867 Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 2, mRNA.

Ensembl
ID Definition
ENST00000391945 TFIIH basal transcription factor complex helicase subunit (EC 3.6.1.-)(DNA repair protein complementing XP-D cells)(Xeroderma pigmentosum group D-complementing protein)(CXPD)(DNA excision repair protein ERCC-2) [Source:UniProtKB/Swiss-Prot;Acc:P18074]
ENST00000221481 TFIIH basal transcription factor complex helicase subunit (EC 3.6.1.-)(DNA repair protein complementing XP-D cells)(Xeroderma pigmentosum group D-complementing protein)(CXPD)(DNA excision repair protein ERCC-2) [Source:UniProtKB/Swiss-Prot;Acc:P18074]
ENST00000391940 TFIIH basal transcription factor complex helicase subunit (EC 3.6.1.-)(DNA repair protein complementing XP-D cells)(Xeroderma pigmentosum group D-complementing protein)(CXPD)(DNA excision repair protein ERCC-2) [Source:UniProtKB/Swiss-Prot;Acc:P18074]
ENST00000391941 TFIIH basal transcription factor complex helicase subunit (EC 3.6.1.-)(DNA repair protein complementing XP-D cells)(Xeroderma pigmentosum group D-complementing protein)(CXPD)(DNA excision repair protein ERCC-2) [Source:UniProtKB/Swiss-Prot;Acc:P18074]
ENST00000391942 TFIIH basal transcription factor complex helicase subunit (EC 3.6.1.-)(DNA repair protein complementing XP-D cells)(Xeroderma pigmentosum group D-complementing protein)(CXPD)(DNA excision repair protein ERCC-2) [Source:UniProtKB/Swiss-Prot;Acc:P18074]
ENST00000391944 TFIIH basal transcription factor complex helicase subunit (EC 3.6.1.-)(DNA repair protein complementing XP-D cells)(Xeroderma pigmentosum group D-complementing protein)(CXPD)(DNA excision repair protein ERCC-2) [Source:UniProtKB/Swiss-Prot;Acc:P18074]
 
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