Special

HsaINT0179950 @ hg19

Intron Retention

Gene
Description
vav 2 guanine nucleotide exchange factor [Source:HGNC Symbol;Acc:12658]
Coordinates
chr9:136674162-136677338:-
Coord C1 exon
chr9:136677236-136677338
Coord A exon
chr9:136674261-136677235
Coord C2 exon
chr9:136674162-136674260
Length
2975 bp
Sequences
Splice sites
5' ss Seq
ATGGTGAGC
5' ss Score
8.27
3' ss Seq
CTCCCCCTTCCCTCCTCTAGAAA
3' ss Score
11.36
Exon sequences
Seq C1 exon
CGAGCATGACCTGGGGGAGGACATCTACGACTGCGTCCCGTGTGAGGATGGAGGGGACGACATCTACGAGGACATCATCAAGGTGGAGGTGCAGCAGCCCATG
Seq A exon
GTGAGCCCTGCCCCGCTCCTCCCTCCCTTCCCCTCCCTTCCCTCGCAGAGCAGCCTGGCCCTTGCTTAACACAATACCGAGCTGTCCCCATGTCTGAGCCACCGAAGGGGAGCTGCTCTGGGTGCAGGGGGACGTCCAGAGGTGCACCCCTTGGTCCTTCCCAGTCCCCACGGAGCTCCTCTGAGGAGCATCCTTGGAAACCCTGGCTGACTCCTGGTCCACTCTGTGCCCTTCCTCTCTATGGAGATGTTCTCAGGTGCCCAGAGATGACACCACCACGGTCATGACCCCCGCCCGTGTTGCCATGGGATTCTCCTTCCAAGGGCTTGCAGGCCCCTCAGTTGTTCCTGCCCAGGGAGCCTTAAGATAGTAACTTGGCGCATGGTCTAACAGCACGCGTCATTTTCCCCCTTTGTGTGGAGAATGATGAGACCAATATTGGCCCAATTAGCCAGCTGTGCGTCTTTTATGTTTGGAGGATGTTTATTTCCAAGCAGGCACTGGCGAATAATCTCTCGGACGCCAGTTTGCTCCGCGTGGGTTTATTGCCAGCAGCTGCTATGTGGAAGGTGGGGATCCAGCGGAGCTGGAATGAGGAGACAGGGACCTGGTAGGGCAGGTCACAGGCCCTCAGACCCCCAGGCTCCCAAGAGTGGGTGAGATGCCACTTGCCAACCGTGGAGGCTTTTGATGCCATTGGCTTCCCCCAAAGAAATAGGAAATTTCTCAGAAAGCTGATTTCAGTGTTTTCCTTTAGTGTGGGAGTAACCAGCTGGTGGTGGAGAAGCAGAAAGCTGGGGAAACAAATCCCTAAAGAGGCCTTGCCCACTCTGCTGGCATCCTGCTGGGAGAGACAGGCAGGTGCAGGGCTGGGGGTCTCACAGCCCCCAAACTGACTGTTAAGAGCAGGTTTCTCTGCTTGTCCTCGAAGGGTCTCGACTGAGTTTTGTTCCCCGCCATAACCGGGGGGTCTCCCCCGAGGGATGGTGGCCCTTTGTGGAGGCAGCAGGGCCTCCAGTTTGCCTTCCCGGGGAGCCTGGCTGGGTAGCTGTTAGGGCTGGAAGACTGAGCCATGGCCCTGCTGCTGGGGGCTCCCCTCGCCTCCCCGGAGCTGGCCTGAGAGGTCCCGAGGCGGCCGGCGAGCCGTCTGGACTTGGGAATGAGCTCTGACTGGTCAAGGCCAGTTCACTCCCCAAGTTGTTTGAAAGCTGGGCGTCCTGCAGGTAAACTTCAGCAGGTGGCTGCGTTGCCTGTGAGGTTGTGTGGGGGATCCTGGCCCTGGATCCTGCAGGCTCTCTTTCTCGAGACCCCCATCCATGCCTGGTGAGAGTGGGTGCTCCCTGGAGCCCGCTGCTGTCCCTGGTTCTGAAGGTCTCAGACCTCTTTGAGAAAACGCATGTGAAAGGACATGGAGTGTCCACAGAACCTGCCAGGCTGGGGAACAGCGCTGCCTATGTCCCGCTCTGCACAGTGTCCTCATGCCCAGCGCTGGTCCCGCTGGTCTCGAGCTGTCCAGTCCATCCAGGCAGGGGCTGGGGGCAAGGGGCAGTTCCTGCTTCCTGCCAGGGTCCTCTGAGATAAAACAGCTGCTCCATGTCCTTCCCTGTCATGTCTGGAGCTCTCTGAACAGCCCCAGTGGAAGGTAATAGAGATGGTGACTTCCCCAAAGGAAGAAGAAGCCAGAGGATGGCAGATGCCATTTCCTGAGCCTGGGTAGGGGGCTGCTATGGGAGCTCTGGCCCATGAGCCATCGCCCTGCCCAGCTGGGCAGCACGAGGGGCCGTGATGTGGCTTTGGGTCTGTTGGCTGGTTGTGGGGTGGCGTTCCTGATGTCCCAGGCCCAGCTTGCCAGGACAGTGTGGGCCCTGCTAACCGGCGCTGTTTCTGGTTCTTTCTCCACGCTTGCAGATTAGATACATGCAGGTGAGTGGCCCGGAAGGGGAGGCTGGGGACGTCCTGCCTGCGCCGTCTTCTTGACCTTTCAGGGAGGTCTCAGACCTCTCTGAGAAAACTCGGGACCCTGCCCCCAGGAAGACATGGTCAGGCACACATGACTTCAGGCATCAGAGACCCTCGGCACCCCCGTGGTCCTGTACCCACAGCCCCATCTTGCACGTTGCCTTAGAGACCTGCAGCCTGGCAGACCCAAGCGGACCCTTGGGGATTTCTTGGAGGATGATGATGGTCTTAGGGCCGACACGAGCGCTGTGGGTCACAGCACCATTTCTCCAGAGCCTTCTGACAGGTGGGGTTTACCCAGCCTAACAGAACCTTAAAGACAGTGTTGGGAAAATCCATCACTGCCCCACAGTGACCCCACCTGTCACCTCACCCTGGACCATGGGCCAGGCAATCTCTAATCCTGTCCCGGCCACATTCCACCAGAGGTGGGGGCAGGCCCTGCTCTGGAGGAGGCTCCAGGGACCCTGCTGGCGGTGGGGGGTCATCTCAGGCCCCCTGGCTAGAAACCAGTGGACACTCAGGGGAAGAGTCCAGCCTGCAGGTGGCTGTACTGACATGTGCAATGGTGGATGTGGTCTGCATGGAGCCGAGCACACAGTCTGCCACGTAGAGAGGACTTATGCACACAGTAGGTGTTTTAGCAAGTCACTCCTGCTCCTGTGCTGGAGGGGGTAGCTTCTGAGGCCCTCACCCCAGTCTGGTGAAGAATCGAGATTCAGAATCAGAGGAGTAGGAGCCTGGGATTCTAGAAGGCTCTGCCTCCAAGCCTTCCTTGGCACTGTCCCCACGTCACATCCCCTCCCCGTGCGTCAGTTTCTTCATCTGCAAAATGAATGGGAAGGGGTTGGCCCTCTCTGTCACCCATCTGGCTGCAGCACTGCACACTCAGTGACCTCGTGGCCAAACCCAAGGAGTCCTCTTTTGTGGAGGTGTCCGGGTGTCGCGGTGCAGATGTGCAGGTGGCAGGTGGCCGGGCCCATGGGGTCCTGCTGACTCCCCCTTCCCTCCTCTAG
Seq C2 exon
AAAATGGGCATGACTGAAGATGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGAGGCCAAGTACTACCGCACCCTGGAGGACATTGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160293-VAV2:NM_003371:5
Average complexity
IR-C
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:
PF0062115=RhoGEF=PU(11.5=60.6),PF084296=PLU-1=PU(8.5=54.5)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
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

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains