HsaINT0067722 @ hg38
Intron Retention
Gene
ENSG00000165219 | GAPVD1
Description
GTPase activating protein and VPS9 domains 1 [Source:HGNC Symbol;Acc:HGNC:23375]
Coordinates
chr9:125332510-125337095:+
Coord C1 exon
chr9:125332510-125332629
Coord A exon
chr9:125332630-125337017
Coord C2 exon
chr9:125337018-125337095
Length
4388 bp
Sequences
Splice sites
5' ss Seq
ACGGTAAGA
5' ss Score
10.65
3' ss Seq
CAGTTTCCCTCCTGTTTTAGGTG
3' ss Score
11.36
Exon sequences
Seq C1 exon
GCATAAGTGCAACCTCTGAGGATATTCCCAATAAGATTGAAGACCTGAGATCTGAGTGCAGCTCTGATTTTGGGGGTAAAGATTCTGTCACTAGTCCAGACATGGATGAAATAACTCACG
Seq A exon
GTAAGAGGGGGAAATGAGGATGACTTAAAAAATGACCACATCCGTGGTTGAAACTGGCACTGTGACACATTGCTGGTGACAGCATCTGTTGGTATAGCACTTTGGGACATACTTTGTCAGTATCTATTTAAGGTCTTAAATGTTCACATTCTAAATTTAGTCAGGTTAGTTCCACTTCTAGGTGTCAGTCATAATGAAAAAATTCCATGTGTAGAGAAAGTCCTTAGCACGAAGATGTTCTTTATAATGTTTTGTATTGGCAGAAAACTAGAAATAACTTAAAAAATTGAAAAGTGGAATGGCTAAATAATTTTGATGTAACTGCTTATTGGAATTTATGTAGCTATTTTAAAATGCATTAAGGAATATGAAATGACTTAGAGAAAAAACTAGAACATACTACATGGAATTTATTTTGTAGAACTTTACACACAAAATAATAAAACTTCTGTTTTTTTTTTGAGACGGAGTCTTGTGCTGTCACCCAGGCTGGAGTGCTGTGGCACGATCTTGGCTCACTGCACTTCCGCCTCCTGGGTCTGCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTTGGATTACAGGCACCCACCACCACGCCCAGCTAATTTTTCTATTTTTAGTAGATACGGGGGTTTCATCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGAGTACAGGTGTGAGCCACCGCACCCGGCCAGTAAAACATTTTTTAAAAACCTATGCAAGAAGTAAGTACTGGAAATACCAAAATGCTAGCAGTGGTTTTATATATTGGGTGTTAGGTTTTGAGGTACCTTTTGTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACCACAACCTCTGTCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTGGAACCCCCAACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCTCTGCGAGGTACTTTTTCTATTTTTACAATTTTTTTTTGTTCTAAACCAGGGTTTTTTAACCTTAACACCATTGACATTTTGGGCTGGGAAATTCTTTGTTGTGGGGGCCTGTCCTGTGCATTTTAGGAGGTTTAAGCAGCTCTGGCCCCTACCAGTAGTATATGCCCTTTACCCCCTGGGGTTGTGACAACGAAAAATGTCTCTAGACATTGCCAAATGCTCTCTTGGGGGACAAAATAGCCACCAATCAAGAACCACTGTTCTAAACCAGCAGTCTCAAAGCATGGTCTCCATGGACCACTGAGGTCCTAAGACCCTTTGAGGGAGGAGTGTAGATGAAGTCACAACTGTTTTCATAAAAATCAAAGTTAACTGTCCATTTTCACCGTGTCGACATTTGTACTTACGGTGCATAGGCAAAGTGGATAAAATTTGCTGGGGCCCTAGCAGGATGCAAGGGCACCACACTGTATTCTTCACTCACAGTTAAAAAAAAAAAAAAAAAAAAAAGTTTTACTTAGGAATGTCTTTGATGAAGGAATAAAAATTACTTAATCACATCTCAACCCTTGAGTATACACCTTTTTAATATTCTGTGTGAAGAAATAGGAAGCACCCATATTGCGTTTTCACCGCATTCTGAGATATGATGAGATGTCTCAAGAAGCACTTATGGATTATTTGAGTTGTTAGCTGAACTAGCCAATGTTTCTCCTTATTTTTATTTGGTTTTTCATGAAATATTATTTTTACTTGGAAGAATGACAGATAAACTGTATTTCTTATGAATACGTAATTGGGTATTTGGCAGACATCTCAAAAATTAACAAAGTGTGGCCAGGTGCGTTGGCTCACACCTGTGATCCCAGCACTTCGAGAGGCTGAGGCTGGAGGAGTCCTTGAGCCCAGGAGTTCGACATCATCCTGGGCAACATGGTGAGACCTCGTCTCTACAAAAATAAAAAAATAAAAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTGGTCCCATCTTTAAAAAAAAAAAAATTAACAAAATGATCCTGTTTCTTAGAGAAGCAACTAATAGAGTGGAGTTTGTTGCCAGTGATGAAATTCAAACTTTTGGACAAAAATTAGAATTTTGGAAACGTGTGTCTACCTGCATGAGCTTGACAGCTTTCTGTTGTTTAAAGACTTTTCTGGTGAGATTGGTGGTGATATGAAAAATGTGAATTTAGCAGAGGACAAAAAGTTCATTGATTTGGTTTCAAATTCTACCTTGTAGCTATCCTTTAAAAAACTATACTTCTCAAGATGTGGTAGAGTATCAAAGAATAATATCCACAATTTTCTGAAAAGGCTACTAACATATTGTTCCTTTTCCAACTACATGTCCGTGTGAGGCCAGATTTTCTTTATATACTTCAGCCAAAACAACATTTTCAACACATTGAAGCAGAAGCAGACATGAGAATCCAGCTGTCTTCTAGTAAGCTGTACATTAAAAATACTTGCAAAAAATGTGTCATTCTCTTCATTTTTTATTTTGGAAAATAATAGTTATTTATTTATTTATTTTTAATGCTTTTTTGTGTTACCATTAAAATTTTTTCTTTTTTTTTTTAAAAATGGGGCTGGGCGCGGTGGCTCACGCCCATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATTACGAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGTGTGCCTGTAATGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCACCCTGGTGACAGAGTGAGACTCTGTCTCAAAAAAGCAAAAAATGGACAGCCTCCCAAACCAGAGTAGGTTCAGAGAGACTCTTGTATTACCATTTAATGGGTATATTTAAATGAATTAATAAATATTTAAACTTCAGTTTTCTAATATAGAATATCAATAGATATAACCACCATAAACAAAAGCTATTAGGGTCAGTAATTTTTTAAGTTGTAAAGATATCTTGGCCAGGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCAGAGGCAGGAGGAGTGCTTGAGCCTAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAGACCCTGTCTCTACAAAAAATAACATAAAAATTAGCTGGGTGTGGTGTGCTCACAGCTATTTGGGAGGCTAAGGCAGGAGGATCACTCGAGCCCAAGAGATTGAGGCTGCAGTGAGCTATGTTTGCACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACTTTGTCTCCAAAAAAAAAAAAAAAAGCCTGAGACCAAAATTTGAGAACTGCTGTTTTAGTCCATCTTTTATAATGATCTAACTATAGAACAAAAGTAAAAATCAAAAGGCATAATAGTACTCTCATTCATTATCAAAAGATATAGCTTGAGACCAAAAAAAAAAAAAAACAAAAAACAAAAAATAGCTTCAGACTAAAAACATTTAGATTAATAATTTTTTTATGTTTGAAATTTCCATCCTCTGCATACTTATCTATTTTAAAGTTATTTGCTGAGAGCAGTGTTAGAACTTCAAGATTTACAGCCTTTTATTTGTACGCTGTCTGTACAGAGTATTGCCCCTATGTTTATAATTTATTTATTTTTTAATTTTTAGTTCTTGTAAATTTTTGTAGAGACCAGGTCTCACCATCTTGCCCAGACTGGTCTTGAACTCCTGGGCTCAAGCGGTCCTCCCTCCTTGGCCTCCCAAAGCACTGGGATTAAAGGCATGAGCCCCTACACCTGGCCTGCCCCCTATATTTTCAGGTGAGGGGAAGGCGAGGCTCAGGGAAGCTGTGACATTCTCAAAACATTGATGGTTTAGGTCTTCCGGCTTTGTTCTCTTTGCATGAACCATACTAGCATTTGGCCATTAGAAGTAACAGGCATGTAGATGCCAGACCACTTAAATGTAAAGAAAATCTGTGTATGAAGATACTCATAAAAACAGAAAATGAATTGGAAGTAATCATAATTTGATTTTTTTTTTCTGGTATGCCTCTCAAGTTCTAATGGATCAAAAAAGGAACCGTCAAAGAATACTTAAAACCCTTTAAACTGTGTTGAGACCGTCTGTCCTGCGTCCTGGCTTGGTCTCACAGTTTCCCTCCTGTTTTAG
Seq C2 exon
GTGCCCACCAGCTGACCTCTCCTCCTTCTCAGTCAGAGTCTCTGCTGGCCATGTTTGATCCACTGTCTTCACATGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165219:ENST00000467750:14
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.963 A=NA C2=0.979
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
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