HsaINT0067727 @ hg19
Intron Retention
Gene
ENSG00000165219 | GAPVD1
Description
GTPase activating protein and VPS9 domains 1 [Source:HGNC Symbol;Acc:23375]
Coordinates
chr9:128104498-128109220:+
Coord C1 exon
chr9:128104498-128104578
Coord A exon
chr9:128104579-128109097
Coord C2 exon
chr9:128109098-128109220
Length
4519 bp
Sequences
Splice sites
5' ss Seq
CAGGTTTGT
5' ss Score
7.44
3' ss Seq
CACTCTCCTTTCCCTTGCAGATG
3' ss Score
13.41
Exon sequences
Seq C1 exon
CTCCTATACCATTTAGAAAGAAAGAAAAACAAGAAAAAGACAAAGATGATCTGGGGCCTGACAGATTCTCAACACTCACAG
Seq A exon
GTTTGTAGACCCATGGACTTCCTGGCTCCTTCATTCCCAGAGCACATATTTCATAACACTTTTTCTTGGGTGCCATAAGCGTTGCCTTTCTAGAAGAGTGTGTCTGTGTGTACAGTGGGGAGTATGTTCTTCATAGCTCTGTGGTTTCCAGTTGGTGGCCACAGTAAACCTGTGTGCTCTTCCTGCAGACTGCCACCACCATCATCATCCTCATTATCATAACTCCGTTTATGATGAGGCCCCTGATCCTGAGCCTCTAGGCATACCCTACAACTCAACATCTAGTGGGATGATGACACACAGTGCCTTTTAGGAAAGTGTGGTGACAGTTTTGGTGCTGTGCATGCTGTATCTTTGGATCATTGATTGAATAGTTTTCTCTAACATTGATCGTAGAATTCTACATTTATTTTCATCTACAGTTTGTTCTTGATTATTCAGGATCACAGTGAAATTCTGTTTTACCTAATCGTTTCCTTTTTTGTGATAAAGTGTTTGTTCAAACAGTATCATAAATGCCAACCATTATAATGAAAGTTTTAAAAACTTTACTAATTTTTTACAGCTTGAACCATTTTAACATTGCCATCTGACCCAAGGAAAATACAGCTGGGGGTTGGGTTTTTACCTGATTAAGCGTTTGTATTTCTGCAGCTGCTTTTTGGCACATTATGAATGAGCACCCTAAAAGGACAGTTTGAGAGTAGTGTTAATGACCCAGTCTTGGGTTTGATAGCTGTGTATTGTTTCCAGTGGCTATTATAGAGCATCTTGAGCAAGTTTGTTCAACCCACGGACCGCAGACCACAGGCAGCCCAAGACAGCAGGACAGCTTCGAATGCAGCCCAACACAAGTTCATAAACTTAAAACAGTATGAGATTTATGCAGGAACCCTTTTTTTTTTTTTTTAAGCTCATCAGCTATCATTAGTGTTAGTGTATTTTATGTGTGGCCCAAGACAATTCTTCTTCTTCCAGTGTGGCCCAGGGAAGCTAAAAGATTGAACACCCCTGGTCTAGAGGAAAGTTCATTTCTCACCTCTTTTTTTTGATTTTGAATTGTTTTCCTACTAAGTTAAAGTGAAAATTTTTTTCATTAAACAATTTTATTTAAAAATGGGATAGATAATAGGATAAGAACATCCTCATCAAAGAGTTCAGCATTACAGGTAGAATCCCATTTTAATGCCTATTATTCTAATGGTTGGTTCCATATATTTATATGTATTTCCATATCCTAGCATATAAGTCCTTGCTTTATTTGAAATGGTGATTTCCCCAGAATAAAGGGTTTTGAACAGCAGGAGATGTGCTTACAGGCCACAGTTCCCTGCTGAGAGCAGCTAAGCCTGTCCTATTCAATCAGTAAATACTTGTTGACCATGTGACTCATGCCAGGCACTGTGCTAAGTGTTGTGGGTATTAAGTCAAATCACACATGACTCTTCAGGACCTTCCAGTCTGATTGGGAAGAGCTGGAAAGACATTGTCCTTTTGGCAAAGTATTTCTGTATCCTTACGACATGTTCCTAATGTTAGAAGAACACTAGCGTTTACAAAGTGAATTACTCTTAATGACATCTCATGTTTTTAAAATGTTGAATCAACAATTCTGAAGAAGTTATAAATTATTATTATGGTTTGTTTGTTTGAAGGAGTTATATTTTACTTATCCTCTTTAGGCAATATATTTTTCTTGGTTCTTGATACTGGAACTAGAAGCTAAGTAGAGTAGAATAAGTCTTTTTCATAAAGTAATTTATTTTCTTTGGCTGTGATTCAAGCAGATTAGCTTCCTTACTGGTCCAGAAATTTCTACCCAGTCCTTATTAATGACTCATTGAAAGTTTTCATTAAACCAATTTAAAAATGTTATAGGAGGAAATTTCCTAGCAGTCTGTTCATAATTCTGTGACCCTAACTACTGTTCTTTTCCTGTTATCTCCTAATCTTTTTCCATATTTGTACGTGGCTTTTTCTTGACTGAATTAGATTATGCATGTGACTTTGTATTCTTCTTTTACCAAGTTATTTTATAAAACCTCCCCCAATTTTTAGACATAGTTGGGTTTTATATCATTTTTATTAGCTATAAAATAATCTGTCATGGTTTTACTGCAGTGTAAACGTTCTCTTACTAATGGCTATTTAAATTGTTCCCAATTTTTTATTATGAAAATATTACAGATTTATATAAATTGCATTTTTTGTTTAATTATTCTCTGGGGGTAAAATTTTTAAGAACAGTGTTAATAGAAATAAAGATTATAAGCAACATTGTGGCTCTCACTGTGTTTGGCCATAATGTATTGTATTGTCCCTTTTTCAGACCTCTCAACAGCACTGAAAAGTAATAACCAACTGAGTGAGGTGGAGCATGCCTATTATCCCAGCTCTTTTTGGGAGGCCAAAGTGAGAGGATTGCTGGAGGCCAAGAGTTTGGGGTTACATTAAGCTATGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCTTGTTTCTATTAAAAAAAAAAAAAAAGGCAGTAGCCACAACGTACTTCCCCTTCAAAACAAGATTCTGTAATGATAAATGCTTTATCAGTTTACATTTGGAGACAGATCAGATTTTATTAAGAATCTCTTATGAATTCAAATACTGTTATAGCAAAAATACTAAATTACTTTGGGAATCCTGTCTATATACAATTGTCCTTCAGCATACTCAGGGAATTGGTTCCAGGACTCTTGCCCCCCCACTTCATACCCTAATCCGTGCATACTGGAGTCCTGCAGTTGGCCCTGTGGAAACTGTGTATGTGAAAAGTTGGCCTTCCCTATATGCTTGTTTCACAGCTCTGTGTGAAATGTAGTGTTTTCTTTTTCTTTTCTCTCTCTCTTTTTTTTTTTTTTCTTTTGAGACAGTATCTTGCCCTGCTGCCCAGGATGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAATCTCTATCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCATGCGCCACCATGTCCAGCTAATTTTTGTATTTTTAGTAGAGTTGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCGTGGGTGATCTGCCCGCATCGGCCTCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGTGCCCAGCCTAATACAGTATCTTCAATCTGCATTTGATTGCAAAAAACTGTGTATAAATGGACCTGTGCAGTTCAAACCCATGTTGTTCAAGGGTCAACTGCAGTTTACTACAATTTCACGGAGACATGAATACCATGTGTTTGTTTCATGAGAACAAAAGAAGAGCCGATGAGCATGCTACTTAAGCTGTCTATGTCTTGATTTCGTCTTCTGTAAAATGAGGATGATAACAACGTTTCTCTGTAAGGTTGTTTGATCAGTAGTTGAGATAATCTCTGTAAGGTACTTAGCACAGTTCCTGGCATGTGGTAAGTGCTCAATAAATGTTAGCTGCTATTAGCTGCTGGAAACACAACACACACACACAAAATACGTATATGTATATATACACATAAGTGTGTGTGTGTGTGTGTATATATATATATAAAATCTAGTGATTTCGATGTGTTTGTATAATTTTTAGAAAATGGGATTCTACCAGAATGTGAACATTTATGGTCACCTGCCTGGCCTAGGACTAACCCAGGAGTTTGTGTTTCACTATGGAACTTTGTCCTGTAGATCTATAGCAATCCCTTGCTTTAACAACCCAGTTGACTACTATTTTAGATTCCAGGATAATATTTTTGATGTGCTGATTTTGACAGAGTAATGGTCCTGTCAGTAAACAGTGCTGCATTTGTGATTGTGGTACGTTTTTTCTCTATGCATCTCAGGTACAATTCCAGCACTCCCCAAGAATGTCTAGATTCTCTAGGAGTGCCTCTGACATCATTGCATGCACAAAAGTGCTCTATTCCAGCAGCAGCACTGTCATGGTGAGATCTAGTGAGATAGAATATGAATATTGTTAGTTTTCAAATGCGTGGAGAGAGATTCATAAAGGAAGAATGGAAAAAGACATTTGTTATTATTTAAAGGGGTTTAAGTCTAAATTTGAATAGTTTTTTTTCCTCCTTCAGCATAGAGATGTCTGAATAAATGAAGTCTGCATGTAAAAATGCACTGTTGGAAGTTCTGTTAGCATGAATTGCTGATAACAGTGATTTGAGTGCAAACACTTTAGAAATCCGTCATCCATTCAGTCTGCCCTGAACTTTGACACTGTCATTCTGGTGATGATGAGAAGGTGGAGCTACTCTTCCCAATTTCCTGCTTTGGCAAGGCTCTCAGACCTAGAAATGGGATGAGTAGGCAGCTGCATGGTGCCTCTTAACATTGAGATATGTGCTCTTTTTAAGTCTTACCTCCTAATCTGCCTTTGGGATTATGCTACTGGTGTCATACTAACATCAGAGGTGGTACAAACCCAAGGGGCTAATTCTCTCACTCTCCTTTCCCTTGCAG
Seq C2 exon
ATGATCCCAGCCCTAGACTCAGTGCACAAGCTCAGGTGGCTGAGGATATTCTGGACAAATACAGGAATGCCATTAAACGGACCAGCCCCAGTGATGGAGCAATGGCAAACTATGAAAGTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165219-GAPVD1:NM_015635:18
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.987 A=NA C2=0.972
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)