HsaINT0067737 @ hg38
Intron Retention
Gene
ENSG00000165219 | GAPVD1
Description
GTPase activating protein and VPS9 domains 1 [Source:HGNC Symbol;Acc:HGNC:23375]
Coordinates
chr9:125301983-125305149:+
Coord C1 exon
chr9:125301983-125302826
Coord A exon
chr9:125302827-125305062
Coord C2 exon
chr9:125305063-125305149
Length
2236 bp
Sequences
Splice sites
5' ss Seq
CAGGTATGC
5' ss Score
9.37
3' ss Seq
ACCACTGCTTTGGGTTGCAGGTA
3' ss Score
8.85
Exon sequences
Seq C1 exon
TGCTGAAGCTTCCCCTGCTGAATGTTGCCAACATGCCAAAATTTTGGAAGATACACAATTTGTTGATGGGTATAAGCAATTGGGATTTCAGGAGACTGCTTATGGAGAATTCTTGAGTCGATTGAGGGAAAATCCTCGTCTTATTGCCTCCTCTTTGGTTGCTGGAGAGAAACTTAATCAGGAGAACACACAAAGTGTTATTTACACAGTTTTTACCTCCCTGTATGGCAATTGCATCATGCAAGAAGATGAAAGCTACCTCCTTCAGGTTTTGCGATACTTGATTGAATTTGAACTTAAAGAAAGTGACAACCCTAGGCGACTTTTGAGGAGAGGAACTTGTGCCTTCAGCATCTTATTTAAACTTTTTTCTGAAGGACTGTTTTCTGCCAAACTTTTCCTCACAGCCACTTTACATGAGCCAATTATGCAACTGCTTGTTGAAGATGAAGATCACCTGGAAACAGATCCAAACAAGCTAATTGAGAGGTTCTCTCCATCTCAGCAGGAAAAACTCTTTGGAGAGAAGGGCTCAGATAGATTCAGGCAAAAAGTTCAAGAAATGGTGGAGTCCAATGAAGCAAAGCTAGTGGCTTTGGTGAACAAATTTATTGGTTATCTCAAACAGAACACATATTGTTTTCCACATAGTTTAAGGTGGATCGTGTCTCAGATGTACAAAACCCTCTCCTGTGTAGATAGGCTGGAAGTTGGGGAGGTCAGGGCAATGTGTACTGATCTCCTGTTGGCCTGCTTCATTTGTCCTGCAGTTGTCAATCCAGAACAATATGGAATAATTTCCGATGCTCCTATTAATGAAGTAGCACGATTTAATCTGATGCAG
Seq A exon
GTATGCTTTTGCTATTATTATTAACGTGGCATTTAGTTTAAAATTCAGTTGATTGGGCTGTGGGGGTGGGAACAAATAATACGATGACAGTATTTGTATATTCTTACAACTTTTTCTCAACCAGTCCTAAGTATTTGCATCTTATTAAATAAAAGCAGTAATACTGGGATTTAAAATTATTGCGGTCACAAAACATTTTGTCTTTGTCTGTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACCACCGCCCTGGCTAATTTTTGTATTTTTAGCCATGGGGTTAAAATTTAGGTCAGGCTGGTCTTAAACTCCTGACCTCAGATGATCCGCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACTCCTGGCCTTGGGTGATTGTTAAAAAATGATTAGCTCAAGCTGGGTGTGGTGGCTCTCACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTAGATCGTTTGACATCAGGAATTTGAGACCAGCCTCAGCAACATAGTGAGACCCCCAACTGCCCCATATCTATTAAAAAAAAAAAAAATTGGCCGGGTGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGATGTCCAGAGTTTGAGACCAACCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGTCACATGCCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGACAGAGGTTGCGATGAGCTGAGATTGCACCGTTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAATCAGAAAAAATGATTAGCTGTTTTTAATGATCAGTTATATCACCTTGGGATGTTTAGCAATTCACTGTATAGAAATGCCTGAAATAAAATTTTTAACTTTTTTTAATGTTTATAAATTTAAAAAAATTATAATATGGAACACTTCACAAATTTGTGTGTCATCCTTGCACAGGTGCCATGCTAATCTTCTCTGTAGAGTTCCAATTTTAGTATATGTGCTTCTGAAGCGAGCACAAAATTTTTGACATGAAACAGTAGGTTTTTTTTTGTTTGTCTGTTTGTTTTGAGATAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGTGCCATCTTAGCTCTCTGTAGCCTTTGAACTCCTGAGCTCAAGTGACCCTTCTGCCTCACCCTCCTGAGTAGCTGGGACTACAGGTGTGTACCAGCACACCTCGCTCATTTAAAAAATGTTTTTGTAGAGACAGGGTCTTGCTTTGTTGTCCAGGCTGGTCTTGAACTCCTGGCCTCAGGTAATCCTCCTATTTTGGCCTCTCAAAGTGCTGGGATCATAGGCGTAAGCTACTGTGCCTGGCCCATGAAACACTTAAATTTATTCTTATGGTAGATAATGTATTTGTAGTTTTTTTTGTTTGTTTTTTTTGTCATTCCAGTAGAGATCAAATTACATATTTTCAGAATCAGTAAAAAGGGGGCTTGTCCCAGATATTAAGAAGAGGATGTTGTAATAACTTTCATCATTAGCCTTTAAAAAGAGTGCAGTAACAAATTTTGCCAGTAAGGTACTTGTTCTATGAATTAGTATTTACTTTATCAAACCAGCTTATGTTAGGAATCATTTGCTTTTAAATCTAGGGAAAAAATTATACCTTGATTGCTTTGTGAACGCTATAAGGTAATGTTCTTAATATTAACTTAAGGCAATTTAATGAATGAGTCAGCTTTTACAAATTAATTTAAAAAGCTCTAAACAAATGAAAAGTACAATGTCAGAAACAAATGTATTGTGCTTTTTTTCCCTAATGTTGATATCTTATGTGTTAAAGAGAAATTAAAGCAAAAATTTATACTTTCTCTAACTCTTAATCTAAAAATAGTAAAAGCTGACATAAGGTACACATTTTTTGGGGGATACTATTTCATATGCCTGGTCAGGTGATATGAATAGTATTATGAAACAGATTTTTAGAACAGAATAGACGTGCTTGCTTTCATAGAGACGTATTTGTGAGTATCTGTCTGTAGCTTATGTCTCCCTACCACTGCTTTGGGTTGCAG
Seq C2 exon
GTAGGCCGCCTTTTGCAGCAGTTAGCAATGACTGGCTCTGAAGAGGGAGATCCCCGAACAAAGAGCAGCCTTGGAAAGTTTGACAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165219:ENST00000467750:4
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=0.147
Domain overlap (PFAM):
C1:
PF0061614=RasGAP=PU(94.6=67.7)
A:
NA
C2:
PF0061614=RasGAP=PD(4.5=31.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
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
- Autistic and control brains
- Pre-implantation embryo development