Special

HsaINT0067735 @ hg19

Intron Retention

Gene
ENSG00000165219 | GAPVD1
Description
GTPase activating protein and VPS9 domains 1 [Source:HGNC Symbol;Acc:23375]
Coordinates
chr9:128121699-128123004:+
Coord C1 exon
chr9:128121699-128121771
Coord A exon
chr9:128121772-128122806
Coord C2 exon
chr9:128122807-128123004
Length
1035 bp
Sequences
Splice sites
5' ss Seq
GAGGTAATA
5' ss Score
7.96
3' ss Seq
TTGTCTATGGTCTCACTTAGGTT
3' ss Score
7.64
Exon sequences
Seq C1 exon
GGTTCTTCATGAACATATCCAGAGATTGTCTAAAGTAGTGACTGCAAATCACAGAGCTCTTCAGATACCAGAG
Seq A exon
GTAATACAGGTTTATATAGCATGGGTAATGTTAACTAAATGCTGCGTGTTATTATACCATATAATGTTACCACGTGTTCAAGGAACTGAAATGTGATAAAATATAAAACATCATTTTCACTCTATGTAATTCAGTCTAACTGCGAAGTTCCTGAAGATGCTTTCAGGGATTAAAATTCCCTGGTATGAAATAGTAGAAAGCCAGTTGTGAGGAGCCCTTCCTTGATGCCACTTCTCAAGTCAGCCCTGCTCTCAGGGGCAGTACCTCTCCATCAGTGCTTTTATAGTCAGGTTTCTACAGAAATGTTTTGAAGAAGTGGGAGGCTGATAGCACTCCAAAGAGTGAGATATGCTGTCTCAGGAGAGGTCATTGAGTCTGCATGTGATCTCAGATTACCTTTTAGTCATTGATATTAGCATTTTTACCTGTCCTACATCTCTTAGAAAATAAGAAAACATGAAAATTTCAGGTATTTGAGCTTTCTGTTTGTTTTTGTTACAACCCCCACTAATGAGACATGAATTAGCATAAAATTTTAAATTATCTTTAGTTTTTTGAATCTGTTATTTCTGGAATTACTGCAACAATGGTACATATTTTTAAATTAACCTCTTTTATCACATGTGATAAATCTAGTTCCTGTGTAGAGCCAGTTTAAGCTAGTTTTAAGGAAAAGTCCTCTTTTAGTAGTTTGTACTTCTGGAATCAGCTACTAAATGTAGAGAAGTTCCATTCTAGCTATTTAAGAAAGAGAATGGTTTGAAATTTTGTGAATTCTAGCTTCTGTGCTGTTGAATGCCCTTTTTCTATTAATGGATATCTGGTTTGCTGTATTTTAAAATTCAGAGCAACTTATTTAAAAGTTCTAAAGTTACAATCTTTAGTGAAGGGGAAAGGGGCCTGCAATATGGTTTTACCAAAGAGAGGAAAAAGCAACCACATTATCCTCTGCCTCCTGACACGGAGGTTGCAGTAGTCACTGCGCAGGGTTGCCACTGGATTCAGAATCTGTATATTGTCTATGGTCTCACTTAG
Seq C2 exon
GTTTATCTTCGAGAAGCACCATGGCCATCTGCACAATCAGAAATCAGGACAATAAGTGCTTATAAAACCCCCCGGGACAAAGTGCAGTGCATCCTGAGAATGTGCTCTACGATTATGAACCTCCTGAGCCTGGCCAATGAGGACTCTGTCCCTGGAGCGGATGACTTTGTTCCTGTGTTGGTGTTTGTGTTGATAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165219-GAPVD1:NM_015635:25
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=0.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF0220413=VPS9=PU(56.3=87.9)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTTCATGAACATATCCAGAGATTGT
R:
TCAACACAAACACCAACACAGGA
Band lengths:
263-1298
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