Description
SCL/TAL1 interrupting locus [Source:HGNC Symbol;Acc:10879]
Gene Synonyms
MCPH7, SIL
Location
Chromosome 1: 47,715,811-47,779,819 reverse strand.
GRCh37:CM000663.1
About this gene
This gene has 10 transcripts (splice variants) and is associated with 74 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000360380.3 | STIL-001 | 5225 | 1287aa | ENSP00000353544.3 | Protein coding | CCDS548 | Q15468 Q5T0D0 | NM_001282936.1 | GENCODE basic, |
| ENST00000337817.5 | STIL-202 | 5016 | 1287aa | ENSP00000337367.5 | Protein coding | CCDS548 | Q15468 Q5T0D0 | NM_003035.2 | GENCODE basic, |
| ENST00000371877.3 | STIL-004 | 5009 | 1288aa | ENSP00000360944.3 | Protein coding | CCDS41329 | Q15468 | - | GENCODE basic, |
| ENST00000243182.6 | STIL-201 | 4609 | 1287aa | ENSP00000243182.6 | Protein coding | CCDS548 | Q15468 Q5T0D0 | - | GENCODE basic, |
| ENST00000396221.2 | STIL-008 | 4558 | 1270aa | ENSP00000379523.2 | Protein coding | E9PSF2 | NM_001282937.1 | GENCODE basic, | |
| ENST00000447475.2 | STIL-002 | 2984 | 918aa | ENSP00000411664.2 | Protein coding | Q5T0C7 | - | CDS 3' incomplete, | |
| ENST00000436811.1 | STIL-006 | 633 | 211aa | ENSP00000409087.1 | Protein coding | Q5T0D4 | - | CDS 5' and 3' incomplete, | |
| ENST00000413565.1 | STIL-005 | 542 | 92aa | ENSP00000412019.1 | Protein coding | Q5T0C8 | - | CDS 3' incomplete, | |
| ENST00000418131.1 | STIL-003 | 3417 | No protein | - | Retained intron | - | - | - | |
| ENST00000433827.2 | STIL-007 | 541 | No protein | - | Retained intron | - | - | - |
