Special

HsaINT0067737 @ hg19

Intron Retention

Gene
ENSG00000165219 | GAPVD1
Description
GTPase activating protein and VPS9 domains 1 [Source:HGNC Symbol;Acc:23375]
Coordinates
chr9:128064262-128067428:+
Coord C1 exon
chr9:128064262-128065105
Coord A exon
chr9:128065106-128067341
Coord C2 exon
chr9:128067342-128067428
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-GAPVD1:NM_015635:3
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.145
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


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
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