HsaINT0067723 @ hg19
Intron Retention
Gene
ENSG00000165219 | GAPVD1
Description
GTPase activating protein and VPS9 domains 1 [Source:HGNC Symbol;Acc:23375]
Coordinates
chr9:128097451-128099374:+
Coord C1 exon
chr9:128097451-128097531
Coord A exon
chr9:128097532-128099296
Coord C2 exon
chr9:128099297-128099374
Length
1765 bp
Sequences
Splice sites
5' ss Seq
CTAGTAAGC
5' ss Score
5.2
3' ss Seq
CAGTTTCCCTCCTGTTTTAGGTG
3' ss Score
11.36
Exon sequences
Seq C1 exon
ATTTTCTTTATATACTTCAGCCAAAACAACATTTTCAACACATTGAAGCAGAAGCAGACATGAGAATCCAGCTGTCTTCTA
Seq A exon
GTAAGCTGTACATTAAAAATACTTGCAAAAAATGTGTCATTCTCTTCATTTTTTATTTTGGAAAATAATAGTTATTTATTTATTTATTTTTAATGCTTTTTTGTGTTACCATTAAAATTTTTTCTTTTTTTTTTTAAAAATGGGGCTGGGCGCGGTGGCTCACGCCCATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATTACGAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGTGTGCCTGTAATGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCACCCTGGTGACAGAGTGAGACTCTGTCTCAAAAAAGCAAAAAATGGACAGCCTCCCAAACCAGAGTAGGTTCAGAGAGACTCTTGTATTACCATTTAATGGGTATATTTAAATGAATTAATAAATATTTAAACTTCAGTTTTCTAATATAGAATATCAATAGATATAACCACCATAAACAAAAGCTATTAGGGTCAGTAATTTTTTAAGTTGTAAAGATATCTTGGCCAGGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCAGAGGCAGGAGGAGTGCTTGAGCCTAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTCTACAAAAAATAACATAAAAATTAGCTGGGTGTGGTGTGCTCACAGCTATTTGGGAGGCTAAGGCAGGAGGATCACTCGAGCCCAAGAGATTGAGGCTGCAGTGAGCTATGTTTGCACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACTTTGTCTCCAAAAAAAAAAAAAAAAGCCTGAGACCAAAATTTGAGAACTGCTGTTTTAGTCCATCTTTTATAATGATCTAACTATAGAACAAAAGTAAAAATCAAAAGGCATAATAGTACTCTCATTCATTATCAAAAGATATAGCTTGAGACCAAAAAAAAAAAAAAACAAAAAACAAAAAATAGCTTCAGACTAAAAACATTTAGATTAATAATTTTTTTATGTTTGAAATTTCCATCCTCTGCATACTTATCTATTTTAAAGTTATTTGCTGAGAGCAGTGTTAGAACTTCAAGATTTACAGCCTTTTATTTGTACGCTGTCTGTACAGAGTATTGCCCCTATGTTTATAATTTATTTATTTTTTAATTTTTAGTTCTTGTAAATTTTTGTAGAGACCAGGTCTCACCATCTTGCCCAGACTGGTCTTGAACTCCTGGGCTCAAGCGGTCCTCCCTCCTTGGCCTCCCAAAGCACTGGGATTAAAGGCATGAGCCCCTACACCTGGCCTGCCCCCTATATTTTCAGGTGAGGGGAAGGCGAGGCTCAGGGAAGCTGTGACATTCTCAAAACATTGATGGTTTAGGTCTTCCGGCTTTGTTCTCTTTGCATGAACCATACTAGCATTTGGCCATTAGAAGTAACAGGCATGTAGATGCCAGACCACTTAAATGTAAAGAAAATCTGTGTATGAAGATACTCATAAAAACAGAAAATGAATTGGAAGTAATCATAATTTGATTTTTTTTTTCTGGTATGCCTCTCAAGTTCTAATGGATCAAAAAAGGAACCGTCAAAGAATACTTAAAACCCTTTAAACTGTGTTGAGACCGTCTGTCCTGCGTCCTGGCTTGGTCTCACAGTTTCCCTCCTGTTTTAG
Seq C2 exon
GTGCCCACCAGCTGACCTCTCCTCCTTCTCAGTCAGAGTCTCTGCTGGCCATGTTTGATCCACTGTCTTCACATGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165219-GAPVD1:NM_015635:14
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.464 A=NA C2=0.985
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)