HsaEX6024824 @ hg38
Exon Skipping
Gene
ENSG00000132470 | ITGB4
Description
integrin subunit beta 4 [Source:HGNC Symbol;Acc:HGNC:6158]
Coordinates
chr17:75729265-75757818:+
Coord C1 exon
chr17:75729265-75729436
Coord A exon
chr17:75756429-75756617
Coord C2 exon
chr17:75757626-75757818
Length
189 bp
Sequences
Splice sites
3' ss Seq
CCCCCACCTGATCCCCCCAGGTG
3' ss Score
9.2
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACG
Seq A exon
GTGAGCTGCATCGGCTCAACATCCCCAACCCTGCCCAGACCTCGGTGGTGGTGGAAGACCTCCTGCCCAACCACTCCTACGTGTTCCGCGTGCGGGCCCAGAGCCAGGAAGGCTGGGGCCGAGAGCGTGAGGGTGTCATCACCATTGAATCCCAGGTGCACCCGCAGAGCCCACTGTGTCCCCTGCCAG
Seq C2 exon
CTACTCCATCCTTGCACCCCTGGGGGCCCAGCCCACCCGCATGCACAGAGCAGGGGCTAGGTGTCTCCTGGGAGGCATGAAGGGGGCAAGGTCCGTCCTCTGTGGGCCCAAACCTATTTGTAACCAAAGAGCTGGGAGCAGCACAAGGACCCAGCCTTTGTTCTGCACTTAATAAATGGTTTTGCTACTGCTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132470_MULTIEX1-32/35=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.202 A=0.305 C2=0.671
Domain overlap (PFAM):
C1:
PF0036213=Integrin_beta=FE(13.6=100)
A:
PF0004116=fn3=PD(50.0=65.6)
C2:
PF0036213=Integrin_beta=PD(4.3=14.8)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TAAACTGCAGGGAGAGCGGAT
R:
AACAAAGGCTGGGTCCTTGTG
Band lengths:
247-436
Functional annotations
There are 1 annotated functions for this event
PMID: 11044453
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: coimmunoprecipitation, glutathione s tranferase tag, mutation analysis, pull down. ELM ID: ELMI001551; ELM sequence: LLPNHSY; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains