Special

HsaEX6024824 @ hg19

Exon Skipping

Gene
Description
integrin, beta 4 [Source:HGNC Symbol;Acc:6158]
Coordinates
chr17:73751782-73752940:+
Coord C1 exon
chr17:73751782-73751931
Coord A exon
chr17:73752510-73752698
Coord C2 exon
chr17:73752785-73752940
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
ACTCTCGCCTGACTGCTGGTGTGCCCGACACGCCCACCCGCCTGGTGTTCTCTGCCCTGGGGCCCACATCTCTCAGAGTGAGCTGGCAGGAGCCGCGGTGCGAGCGGCCGCTGCAGGGCTACAGTGTGGAGTACCAGCTGCTGAACGGCG
Seq A exon
GTGAGCTGCATCGGCTCAACATCCCCAACCCTGCCCAGACCTCGGTGGTGGTGGAAGACCTCCTGCCCAACCACTCCTACGTGTTCCGCGTGCGGGCCCAGAGCCAGGAAGGCTGGGGCCGAGAGCGTGAGGGTGTCATCACCATTGAATCCCAGGTGCACCCGCAGAGCCCACTGTGTCCCCTGCCAG
Seq C2 exon
GCTCCGCCTTCACTTTGAGCACTCCCAGTGCCCCAGGCCCGCTGGTGTTCACTGCCCTGAGCCCAGACTCGCTGCAGCTGAGCTGGGAGCGGCCACGGAGGCCCAATGGGGATATCGTCGGCTACCTGGTGACCTGTGAGATGGCCCAAGGAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132470-'41-43,'41-42,42-43=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.235 A=0.234 C2=0.188
Domain overlap (PFAM):

C1:
PF0004116=fn3=PU(48.8=80.4)
A:
PF0004116=fn3=PD(50.0=65.6)
C2:
PF0004116=fn3=PU(49.4=81.1)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCCCACATCTCTCAGAGTGA
R:
CTCCTCCTTGGGCCATCTCA
Band lengths:
246-435
Functional annotations
There are 1 annotated functions for this event
PMID: 11044453
This event
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