HsaINT0179970 @ hg38
Intron Retention
Gene
ENSG00000134215 | VAV3
Description
vav guanine nucleotide exchange factor 3 [Source:HGNC Symbol;Acc:HGNC:12659]
Coordinates
chr1:107596212-107602484:-
Coord C1 exon
chr1:107602397-107602484
Coord A exon
chr1:107596342-107602396
Coord C2 exon
chr1:107596212-107596341
Length
6055 bp
Sequences
Splice sites
5' ss Seq
ATGGTAAGC
5' ss Score
9.26
3' ss Seq
TTGGATTCTTTTTTCCAAAGGAA
3' ss Score
6.79
Exon sequences
Seq C1 exon
GTACAATAATGAAGCAAAGCACATCAAGATTTTAACAAGAGATGGCTTTTTTCACATTGCAGAAAATAGAAAATTTAAAAGTTTAATG
Seq A exon
GTAAGCATTGATTATTTCTTTTCAATCTGGGATCCTTATTTTTCTTTTGTTAGAAAGGTCATTTTAATTCTATAGTTTCTTGGAAATTTTGCTCACTGAAAAGTTATTTAAAGATAATCATATTCTAATTTTGCAACAAAATCCTGAAAATTCTAATTTATAAATCTCTAAGTTTTATATTGCTCGAATCGTAATCTTCATTGTAAATTGTTTGCAGGTTTAGATAGAGTTTTGGTTTGTGTTTAAATGATACAGCAGATTTTAAATATACCTTTCTTTCCTCTTTTTTTCTTCCTTTGCCTCTATGTCCTGATTCAGGCAGAGGACAGTATTTTAAATTATAACACAAAAAGTTGTAATTAGTAAAATATGTCTAACATTTAGGTTCATTTTTTATAAAATGCAATATAAAGTCAAATTGAAAAGATTTTTGTATTTTTTGCTATTTTAAGTGATCTCTACCATGGTTCTCATTCATTACCTTAGATAATTATGCATTAACAAGGTAACATTTTTGCCACTTAACAGTTGATATTTCATAGGAATTGTATATTTAAATGGAAATAGTATATTGTCAAATCACATCAAATGAATAAGGATTATTCCCAGTTTAAAAAAAATAGAACTTATTCATACTTTTGTTAGCATATAAGAATATTTTGTGTATGTCATTTAAACAATGTGTATATATCATCATGTATGCGTTGCTAACAGTAAACTCTAAATTCACATTTCCTTAAGTGGTCTCAAGTATGTTTCTCAAGTTTGGTAGTTTCTGAGATAATGAAGAGTTTGGATATAGGACATAAGATGCATTTGTACTGCTAAGTACCTTGAGTAACATTGGGAAGGACCACTCATTGAATGAACCATCAATCAAATGATACATACTGCATCCTTCCAGAAAACATCTCAAAGCACTTTGCAGATGTTAACATTAAAGTTAAACTGAGTGTAAGGGAGCCTTACAAAATAGGCCAGCTTGAATGCCTTATCCAAAAATGTAGAACTGCTTCAAGGCAGGTGTCAGTGTTTTAAAGAAATTGAAGCATCTTGAGTTGAAAGAAAAATAAGAAAATCTCTATGGATGTAAAGATCATTCCCAGTTCAAAAGCTAAGGATGGGCAGCAAGGTCATGTCCTGGAAAATGTAAACTCTGTCAAATTTGTAACCAAGATCCAGGCATCCTCCCTGCTGGAAGTAACTTACATTCTGTTGAAACAAGCAGGCTGAGCACAGAGAGAATTGGACCAGAGGAGGTTCTTCATAAAATGAAAACTTGGAGGGAGGTGGCAAGTGGATGCACAAATAATGAATGACAGACACAGCTGAGACATGATAAAAGCACGCACAGGGGCTCTCCACATCTCTGCAAGACGTACCAGCTTGAGCTTTCACCTGCAGAACTTCCTTGGATGGTAATGAGGCTGCTCCACAGTGTTATAGTTACTATGGGACTTAAAAAACTGCTGCAGAGCCAAAGATAACTGCCAGCCTTGCAGACTTTGAAAGTAGCAAAAGTAACTCCCATCAGAGGAGACAAGCAAAGAAGATGAAAGGAATCGTCACTGAAAAGGGCCAATGAATTTAGCTTTGTGTCACCTGGGTTCAGCTCAAGGCAGTTCTTCAGAAGCCAAGGTTAGATGTGAAAAGCCAGTAATACCACAGTGACCTGGATTGGTAGACATAGATACATGAGTTCCTATCTGCATGTAAAAGCTGTGATTATAGTGAAAGCAATAGAGACCCAGCATTAAAAAAAAATTGTGCCAGAGAGCCTTAAAAGTTTCTACAATGATATTCTCTGGAAAAATAACTAAAAGTACTTGTCACAGGACTAAAGTAAGCTTTTCTTATATGTTATGTATAAAATCTCAGCAATGCCACTATTAGAGACACGTGCATATGTGTTTTCGTCTCCATATCTGGGCATCTTTTGTAAGGAAGCACGTATCACAGCGTGTTAAAGGGAAGGGACTAAGAATTTTAGCAAAGCAAAATGAAACTAACAAACATTAGCAAAGGATGTAATTATGAAAAGAAAAACAAGGAGCTGGAAAAAAAATCTCAATATCAGAAAAGTGCTTTTATCAAGTTTAGTAAATAACTATAAAAATTGCTGAAGAGGCAGCTGAACTAATCTGAAGCTACCCCTCCATTTTGTTTCTGTTCATTTGTTGAGCAAATTTATATTGAGTCCTTACAATGTGAAATCACTTTCTGGAGAACTCAAAAGGACTTAACCATTCTAAAAAGAAGCTTAAGAATCAGTAAATACGTCTACACCAAGAACCTCACCATAGAGCAGTCCTTGGAACCTAGGCTGGGAAATGCCACATGGATACTTGGTCAGAAGGAATGGCTCATGTTTTAGCAACCTGAACTTCTGGAAGGAGGTAGAAGATGATTAATTGGTGTGAAGGTTTCTCAAAATCAAGATCATACAGACTTCATGGAGTTACCTTTTATCATGTTGGAGTCAAATAACACACTTGTCTATTATAAGTAAGGAGTGATCTGTGGATTTGAGTTGTTTCTTAAGAATAGTTCAGTATCCTCTTGTTATTGGTATTAGTTTACTCTTCTATCTGTGAAACACAATAGGGCCTGGAATTAAATTTAAATCTGGAAAGTGTGTAAAACATAAGCAAACTCCAGAGCTTCTTTTAAATTAACTGGTTTCTCAGTGAGAAGATTGGCCTTAGGTGGTTTTGACCTAACCTTTTTCCCTTGAGTTTCAATAGCTTGGTTAATCAGAATCTTTGTCTTTCTTAGTCATTAAATTCAAATCCTAAATGAATTTCTGTATCCAGATTACAAGGCATTAATTTTGTTCTAATTTTCATGTATGCGAGACAGTCCATGTCCAAATGCTGTTTATAAACCATCTCCATTGCCTGTTTCCTTGGTAATTGGAATGACTGGCTCTCACTCATTATTTTTGAGAGACTTGAATTGTTGACACTGCTGTGTCAGTGTGAGATAAGGAAAGCTTAGCGATTTCTTTTGTTTAGAGTCTTCTTATTTACTTGTTGTACCTGAAGGTCAATGACTGTTAAGGCAGGGGTGGATTAGACTAAAATACAGAAAGCATAAAGGCAAATTGGAAAAGATCCATGGTGACACTATTTAGTTCTACCCAGTTAGAAACATGTAGGAAGATTTACCCTCGTAAGACTGTAAAAATGGAACTAAAATATCTTCCATGCTTAGTGAAGTGATAAAGAGTGTTTTGCAGCTTACTAAGTAAGCCGCATGACCCTAGGCCTTGGAAAACTCATTTTTTCTTCCATAAAATTTGGGGGTGGGCGAGTATTAAATAATCACCAAATCATTTTTCAGTATGATAATTCTATGGTTTCTAGCCAAATTCACATAAATTGTAATTCATAGCAAAAATCATAAAATTCATATTACCTATAACAAAATTACGTTGAAGTTCAAAGCTATGGCTTATAATTCCTTTCAAGTTTGTTTTCACATTTGCTAAAGAAAATAACACATTTTACTCAATTTAAGTAATAAGACTAGGAGAAACTTCGGTATCGTTTGTATCAGTGACATTATGTATACGTGTGTGTGTGTGTGTGTGTGTATTCCAGAGACCTCACAAAATTTTGCTTTATATTTTAAAAAAATGAATAGCAATATTGGTCACTAAGTAGAATTTAATTCTATACCTTGTCTGCGCAAAACATGTTAAAATTCACCAAAATACAAATGCATATTCTGATCATTGAAACCATTTTGGAGATACAAACTTCTACATGGTCTTTTGTTTCTTTTTCTCTTTGCTTTTAAAGGTCGGTCTGATTACAAATTTCTTGCTTCAACAAGGACCCACATTATCTGGGCCCAAGGAAGAAAGGAAGAAATACATATTTTTCAAGTTATAGATATAATATTTGGAAGACCCTAACATTTTAAGTCTAAGAAAACAAAGTTCCTAGTACATCATGAACACATAGCAAAAACTATTTCACTTTTGCCTCCCTGTTTTTTGTGTGTGTGTTTTTTGGTGTTTTGTTTTGTTTTGTTTTGAGACAGAGTTTCGTTCTTGTTGCCCAGGCTGGAGTACAGTGGCAAAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGGATCACAGGCACCTGCCACCACACCTGGCTAACTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCACGTTGGTCTCAAACTCCTGGCCTCAGGTGATCCGCCTGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGCATGAACCACCATGCCTGGCTCTTGTTTTTGTATTTACATTTGCTAGGCACTATTTGCTAATAGTATGATACAGTTAAGAGCACAAACTTTGGATAAAGGCGCTAGCTATGTGACTTTGCCTAAGTTCACTCACCTCACTGATATTTGAGCTTCAATGGGAATAAGGCCCATTTCATAATGTTCTTGAGTGAAAGTTATAAGGAGCCATGTAAAGGGCCTGGCACATGGGATAATGGGGTAGCTGTTACAGTTTTTCACATGTATTAGGTACTTTATATATTCTTTGTTATCATCTGTGAAATGGTTTATTAGCCCCATTTTATAGGTGAGATTGAAAAATTGCCATTTCCCTTATCCAATGCTTTAGCCAAACTATGCTGCTTTTAGCTTATGAAAGGTGGTCTTTGTTTATCACCTTTATGTCTGTTTCCAGCCTGCCTGCTCTACCTAAAATGATCTTTCCCTGGTTCCTGGCTATTGTAATTTTACTAGTTCTTCAGTTTAAGCCAAGCTACTTGTATTACAAAACTTTCTGTCACCCTTCCCATTGGATACACAAAACAAAGTTCTCTCTCCTGCCTTTGAACTTTCCCTTCCAAGATGAGAATTCCTCAATGGCAGGAGGCTTATCTTTATAATCTCTGTGACCTCTGAAGCTCCTGGTACAGTGCATTCCACAACATACTCAAGTTTTGTCATAAATAATAAATCATTGATGATTCTCTTTTTCTTCTTTCAGCTGATTTTTGGACTCATTGATTTGTCTGGGGAACTTTGAACATAACCACTGAACAGAGATATTAAGTTGATGGCAGTGGGATTTTTAGAAGAAACAAGTGGTTTTTTTTTCTGTTTTTTTTTTTTTATTTTTTATTTTTAAAAAGGCGCTCCAATAGAAACATTGAATAATTAAGTTAAAAGTGATTTTTCGTTTATTTTCATTTCAGATATTTATAAGAAATTTTATATCTACAGGACTCATTTGATGATAAGATACATTTTTATTGTGAATTATTATTCAGTTTCAGTTTACAGTAGAGAGATTCAGATTTCTGCAGAATCTATGAAACCAACCTGCGAAATTTTCTGAAACGATAGTCTGAAGGATGGCATGTGGTTATTACATTAGGTTTAGATGTATTTAAGACAAATTATTTATAAGAGAAAATTGGAAAGAATTACATTGACCTCTGTGAGTAGCAGATATGCGGAGCTATGACAGGTACTATACTTCATCAGAAACTAAAAACAGTCTCAAGTACCATTTGTGCTTTATCAACTTTTGTTTACCACGAAAAAGCATAAGTTTGTTTTTCTGCCATTTTGAAAGAAAATAAGTGCAGGAAAGTAGAAATTGCTGTATATTCAGCAAGCAGCTGTTCCTTTTATTTTGGTTTAGAAAGGCAAGTATTTCATAAATAAGAACAATAATTACTACTCTGAAACTGAGGTTTAGTATTGTTTCTTTTCATTTGCTACATCTGACTGAAGACAGGATGTTCTCCATCTGTGAATAACAATAGGGGGTAACTCATATTATTAATGGCCTGAGTAACAAGGACAGCTATTAGGTAGGTGTCATGTACATCCAGACAGCAGGGAGAGATTATCATTTGCTTAATCTTCCATATACCTATGGAAAATTTAGCATTAAATTGGTCATCCTTATTGTATTTATGTGCTCAGGAGTTCATGTGTTTGAGAACAAAAGTATCCTTATCAAAAATATGTTGGATTCTTTTTTCCAAAG
Seq C2 exon
GAACTTGTGGAGTACTACAAGCATCATTCTCTCAAGGAAGGGTTCAGAACCTTAGATACAACTCTGCAGTTTCCATACAAGGAGCCAGAACATTCAGCTGGACAGAGGGGTAATAGAGCAGGCAACAGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134215:ENST00000370056:24
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.276
Domain overlap (PFAM):
C1:
PF0063014=Filamin=PD(3.2=33.3),PF0001719=SH2=FE(38.7=100)
A:
NA
C2:
PF0001719=SH2=PD(6.7=11.4)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
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