Description

SCL/TAL1 interrupting locus [Source:HGNC Symbol;Acc:HGNC:10879]

Synonyms

MCPH7, SIL

Location

Chromosome 1: 47,250,139-47,314,147 reverse strand.

GRCh38:CM000663.2

About this gene

This gene has 9 transcripts (splice variants), 65 orthologues, is a member of 2 Ensembl protein families and is associated with 4 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
STIL-001ENST0000036038052251287aaENSP00000353544
 
Protein coding
CCDS548Q15468 NM_001282936
NM_003035
NP_001269865
NP_003026
TSL:1GENCODE basicAPPRIS P3
STIL-201ENST0000033781750871241aaENSP00000337367
 
Protein coding
CCDS72786A0A0A0MR87 NM_001282938
NM_001282939
NP_001269867
NP_001269868
TSL:5GENCODE basicAPPRIS ALT2
STIL-004ENST0000037187750091288aaENSP00000360944
 
Protein coding
CCDS41329Q15468 NM_001048166
NP_001041631
TSL:1GENCODE basicAPPRIS ALT2
STIL-008ENST0000039622145581270aaENSP00000379523
 
Protein coding
CCDS72785E9PSF2 NM_001282937
NP_001269866
TSL:1GENCODE basicAPPRIS ALT2
STIL-002ENST000004474752984918aaENSP00000411664
 
Protein coding
-Q5T0C7 -CDS 3' incompleteTSL:1APPRIS ALT2
STIL-006ENST00000436811633211aaENSP00000409087
 
Protein coding
-H0Y702 -CDS 5' and 3' incompleteTSL:2APPRIS ALT2
STIL-005ENST0000041356554292aaENSP00000412019
 
Protein coding
-Q5T0C8 -CDS 3' incompleteTSL:3APPRIS ALT2
STIL-003ENST000004181313417No protein-
 
Retained intron
---TSL:2
STIL-007ENST00000433827541No protein-
 
Retained intron
---TSL:3

Gene-based displays