Special

HsaINT0067742 @ hg38

Intron Retention

Gene
ENSG00000165219 | GAPVD1
Description
GTPase activating protein and VPS9 domains 1 [Source:HGNC Symbol;Acc:HGNC:23375]
Coordinates
chr9:125321433-125323923:+
Coord C1 exon
chr9:125321433-125321562
Coord A exon
chr9:125321563-125323797
Coord C2 exon
chr9:125323798-125323923
Length
2235 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAAG
5' ss Score
5.73
3' ss Seq
CACTATAAACATTTCTCTAGGTC
3' ss Score
7.32
Exon sequences
Seq C1 exon
GTCCTAAACATGCAGCTTTCGGATGGAGGACAAGGAGATGTCCCTGTTGATGAAAACAAACTCCATGGTAAACCTGATAAAACCTTGCGCTTTTCCCTCTGCAGTGATAATCTGGAAGGAATATCTGAAG
Seq A exon
GTGAAGGGTTACTTCATTCAAGGAGTTGTGTGGTTCAATTAATAGTTTGTTTTGTGTTTTTTAAAGGAGCTTATAAATTATAATTATACCATCTGTGCTTCTCACTGAGGAGACTAATGAAGATTTCCTCTAATGAGCCTGAACAGTTGGCTGTAAAGATTGTTTCCTGAATAAAATTAAAATTGCAAGATGCCTTTGGTCATATAAAATGGAGAAGATATGTCTTTATTCAGACTTAAATAGAATAACAGCAAGTTCTGTTTCTGCAGTATTAATATATACCAAAGCTTATAGAGCTCCTTTAGAAGGATATCATGCATGTCGAAACGGGAAAAAATGGACTTACTAGTATTTCAATATGTTGCACATACTCTTAAATGTTCTGTATTCCTTTACTCACACTCACACATACCTTTATGAAGCAGAAGACAATGGAAATAGGTATTAAAAAGAAAATTCAAAGCCAAGATTGTGAAATGAGAATATGTCATTTTGCCTACTAGTACCAATTTTTTTTTTTTGAGACAGAGTCTCGTTCGTTGCCCAGGCTGGAGTGCAGTGTCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGCATAGTTGGGACTACAGGCACCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCCGGGTTTTTTTTTATTTAAAGACAATAGTTCAAATTTACTGACATTTAAAAAGAAACCTAAAATATAATAACTTCATATTTTAATCTGACTTTTCCAAAAAAATGACATGTAATGTATGTTCATTCTACAAAACAGAGAAATAGAATCACCTATAATCTCAAAATTTTGTTGATAGCAGTTGACGTTTTAGATTATTCACAGCAAAATTAGGTTTATCCTGTTTTGTAACCTTTTGTAATTTAATAATATGGCATTAACATTTCCCTTTGTAATTTAACATTCTTAAATAACATGGTTTTTATGGCTGTTTTCCTTAACCTCACATGGCATATCATAATTTTTTTCAACTTTCTTCTGTGATTAAATCTATAGATTTCTTCCACTTTTTGGACATAATAACTTCTGGGCTGGGCGAAGTGGCTCATGCCTCTAATCCCAGCACTTTGGGATGCCGAGGTGGGTGGATTCACTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACACGGTGAAACCCCATCTCTACTAAAATACAACAAATTAGCTGGGTGTGGCAGCGTGTGCCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCAGGGAGGCGGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCATTCCAGCTTGGACGATAGAGCGAGACTCTCTCTAAAAAAAAAAAAAAAAAAGAAGAAAAAGCTCTATAACAAGCAACTTTAGATTAATTATTATTATTATTTTTTGAGATGGAGTCTCACTTTTGTTGCCCAGGCTGGAGTGCAATGATGCGATCTCAGCTCACTGCAACCTTTGCCTCCCGGGTTCAAGCAATTCCCCTGCCTCAGCCTCCTAAGTAGCTGAGATTACAGGCATGTGCCATCAGGCCGGCTAATTTTTATATTTTTTGTTTTGTTTTGTTGTGTTGTGTTTTGTTTTGTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCCCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGTACTACAGGTGCCCGCCACCACGCCTGGCTAAATTTTTATATTTTTAGTAGAGGCTGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGGCATTGCACCCAGCAGATTAATTTGTTATTAGCACCTTAGGATAAATTCCTAGAAGCAGAATTTCTCAAAGGGCATGTGTTTTTTTAAGGTATAAAAAGTATTAAAAACACTTTAATCAGTTGTTAGTCTTTTATCAAGGCATGAAAAATTGTGTGGTGGCTCATGACTGTTTTAAAAAGATTGCTCACACTATAAACATTTCTCTAG
Seq C2 exon
GTCCTTCAAATCGCTCCAATTCAGTGTCCTCCCTAGACCTAGAAGGAGAGTCTGTGTCAGAACTTGGAGCAGGACCTTCTGGCAGTAATGGAGTTGAAGCTCTACAGCTGTTAGAACATGAGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165219:ENST00000467750:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.979 A=NA C2=1.000
Domain overlap (PFAM):

C1:
PF153241=TALPID3=FE(20.4=100)
A:
NA
C2:
PF153241=TALPID3=FE(19.9=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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