HsaINT0125325 @ hg38
Intron Retention
Gene
ENSG00000186088 | GSAP
Description
gamma-secretase activating protein [Source:HGNC Symbol;Acc:HGNC:28042]
Coordinates
chr7:77313488-77314489:-
Coord C1 exon
chr7:77314370-77314489
Coord A exon
chr7:77313550-77314369
Coord C2 exon
chr7:77313488-77313549
Length
820 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
3' ss Seq
AATCTCTAACTTTCTTGTAGATC
3' ss Score
8.03
Exon sequences
Seq C1 exon
GTTTTCATACTCTGCACACCATCCTCGGGGTCCAGTGTCTCCCTTTGCATAACCTGCTGCATTGCATTGACAGTGGAGTGTTGCTTCTCACTGAAACAGCTGTCATAAGGCTCATGAAAG
Seq A exon
GTAAGAAGCCCTGAGTTTGCCAGAGTGCTAGTTCCAGCCTGAGCACCACCAAGGCTAGCTTCTTGGGTGTGCAACCTGTGCAGTCACCAAGAGCCTGGCTGCACTCAGAAGAGTGCCCTGCTCAGTTTAATGCTGCATTACATCTTGAAATTCTTAGTAGTATTTGAACGAGGGCTTGCTCGTGTTCATTTTGTGCTGAGCCCCACAAATTATACAGCTGGTCCTGTGAGCACAATCCATTCCCTGTAATCATCTTTTGGGCCAATTTAAGGTTTCTGAGCCCTTCACGAGGTCCTAAGGGACTTTTCAATCCACATACAACTATTAGATTCCTTTTCTGTGCAAGAGGGCACTTGAGGCTAGGAACCTCTGCAGGCTTGTTTCTCAAGAAAATGTCACGAAATGGCTTATTTTCAGCTGATTAACTCTGTCATCTCAAAGTTAGACTAGAAATGCAAGGAAAATTATTGAGAGGGGCAATTAAATGAATTTGAACTTTAAATTCTGTAGTATAATCACTCAAATTATTCAATTGTATTTTAAGATGATTTTTGTTTATATGAAAGCATTTGTCATTCCTCAAGGTACCTTCTGTTTTAAGTTAGTCAATAAAATTGCTTTGTACCTGGCAGCCTGTTATAGAAAAATCCCTTTTTATTCAGAGAGTCAGAGTAAAATTTCCAAAATGCTGTTAGATTAGCTTGAGAATACACAGTTGGGATATGTCCTATCAAGATGAACCACTCAAGTATTAATATTAACTTGCTAAAGTATCAAAATGGGTATTTGTTTCATTTGCTAATCTCTAACTTTCTTGTAG
Seq C2 exon
ATCTGGATAATACAGAGAAAAATGAAAAACTGAAATTCAGTATCATTGTGCGGCTTCCTCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186088:ENST00000257626:27
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF149591=GSAP-16=FE(57.1=100),PF056127=DUF781=PU(23.9=53.7)
A:
NA
C2:
PF149591=GSAP-16=PD(17.1=57.1),PF056127=DUF781=FE(21.7=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTTTCATACTCTGCACACCATCC
R:
CGGAGGAAGCCGCACAATG
Band lengths:
182-1002
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development