HsaINT0179959 @ hg38
Intron Retention
Gene
ENSG00000134215 | VAV3
Description
vav guanine nucleotide exchange factor 3 [Source:HGNC Symbol;Acc:HGNC:12659]
Coordinates
chr1:107749462-107751202:-
Coord C1 exon
chr1:107751117-107751202
Coord A exon
chr1:107749595-107751116
Coord C2 exon
chr1:107749462-107749594
Length
1522 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
3' ss Seq
AATCAATCTCTTTTTCCCAGGCA
3' ss Score
6.85
Exon sequences
Seq C1 exon
AACCAACCAGTTTTGCTTTTTGGACGACCTCAGGGAGATGGTGAAATTCGAATAACCACTCTAGACAAGCATACCAAACAAGAAAG
Seq A exon
GTAAGAAAAGAAGAATACTATTTTCAAAATAAGTAATTAGTGTCAGAAAACTGAGAAAACCTTAAAGACAATTTTTCCAGTGTGAAGTAGGGGGAAAAAAGGAAGAAATACAAGGAGACAGACCAACCCATGATTTCTAAATTTTTTAAATCTAGATTATCTTAGGTATTCCCACCTGGGTTCTGGTATCTATTAGTTTGTCTAAGTTATTAAGAAGGAAGTAACAAGTATAGATGATCAGCTAGGATACATTAAAATGAGAAGAGCGATAAAGTAAGAACAGATAACTACCATAAAAACATAATTGAATTTTTGGAATATATTTTTAAATAACCAAAAATAATAGAAAAATGCCCTAAGAAAGAAGATTAAGTGAGAATCACGTAGTAATATTTTCTTGAGGGAAATTTGCAGATGTAGTTCTTGAAGATTAGTAAGCTTGGCCCGGAGTCCTTAATTATGTATATATGTAATCATCAAACAGAGGTTTTTGTGGTTGACAATGATTGTTTTCTGGAATCTTTGGAGAAGCGAAAGCCAGTAGGGGGCAGCATCAGCTCTTGCTTCTTCCTCGATAACCCTGGCTCCATAGGTCCTTTAAACCTCTCTGGGAGAAATAGACGTTAAAAGTGATGCAAGTGTTACAGCCCTGTGAATGTGTCATTATCATTGTGTATAAAAAAAATGTGTGTTAATCACTGAGAGTTTATAAAAATACACAAGTATTGGTATTGGATGATGTGGTTATAAGGTTTATTTTCTCCCCCAAGTTACGTTGTTCTTAATAAGAAAAAAGAAATATTAACATGGAAATTTCACCATAACGTTTTCAGTTTACACTTGGCTCATATACCATTCAGTTTGGGTTTTTAGGTGGCCAATTAAATCATGAGGAACAATATAGAGGGTAAAAGCACAGTTTCCAAAATTAGACCTGTTTGTGAATCCTGTTACATGCCTCACTAGCAGTGTGATCTTGAGCAAATTATCTAACTTCTCTAAGCCTCAGTTTCCTCCTCAATAAAATGAAGATGGCAATGATACCTTCCCAGCATGTGGTCTTGGGGATTTAAATTGAGTCATGTTTGTGAAAGGGATGAACACTTCTCAAGGCATTCTGGCTGATTCCTAGTAACTTCAGTAGAAGCTGCTACGGATGTCATTAATATTATTCTATAGGTTTTTAGCTTTTAAATTAAAAAAGATAATTGCTCATGAACAAACTTTATGGCTTATCTCACTTGGCCCTTTCAACAACTCTGCAGTGTGCATTTTACTCTTACTATGATTTTTGCCCATTTTTAAAATGAGGGAACCAAAGCACACTGAGGCCATTTACAAGGTAAAGGGAAATTCCACACACAGTTCTTATAACCTCAAATACCCCGTTGTTTTCAGTGTATGATACTACCTGTTGTCTTTAATGCAAAGAAAAAAACATTTGGTTGCTTTATACCCAAAAAAATTAATAACCCATGTTTCTAAACCATTTAAAATCAATCAATCAATCTCTTTTTCCCAG
Seq C2 exon
GCATATCTTCTTATTTGATTTGGCAGTGATCGTATGTAAGAGAAAAGGTGATAACTATGAAATGAAGGAAATAATAGATCTTCAGCAGTACAAGATAGCCAATAATCCTACAACCGATAAAGAAAACAAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134215:ENST00000370056:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.103 A=NA C2=0.001
Domain overlap (PFAM):
C1:
PF0016924=PH=PU(17.8=62.1),PF0063014=Filamin=PU(4.4=48.3)
A:
NA
C2:
PF0016924=PH=FE(43.6=100),PF0063014=Filamin=FE(13.9=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCAACCAGTTTTGCTTTTTGGA
R:
TTTGTTTTCTTTATCGGTTGTAGGA
Band lengths:
215-1737
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains