HsaEX6023258 @ hg38
Exon Skipping
Gene
ENSG00000259207 | ITGB3
Description
integrin subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:6156]
Coordinates
chr17:47302721-47311816:+
Coord C1 exon
chr17:47302721-47302840
Coord A exon
chr17:47307471-47307637
Coord C2 exon
chr17:47310139-47311816
Length
167 bp
Sequences
Splice sites
3' ss Seq
TCTGTGCTTCTTCCTCACAGAGT
3' ss Score
10.41
5' ss Seq
ACAGTAAGA
5' ss Score
5.96
Exon sequences
Seq C1 exon
AGGACACTGGCAAGGATGCAGTGAATTGTACCTATAAGAATGAGGATGACTGTGTCGTCAGATTCCAGTACTATGAAGATTCTAGTGGAAAGTCCATCCTGTATGTGGTAGAAGAGCCAG
Seq A exon
AGTGTCCCAAGGGCCCTGACATCCTGGTGGTCCTGCTCTCAGTGATGGGGGCCATTCTGCTCATTGGCCTTGCCGCCCTGCTCATCTGGAAACTCCTCATCACCATCCACGACCGAAAAGAATTCGCTAAATTTGAGGAAGAACGCGCCAGAGCAAAATGGGACACA
Seq C2 exon
GCCAACAACCCACTGTATAAAGAGGCCACGTCTACCTTCACCAATATCACGTACCGGGGCACTTAATGATAAGCAGTCATCCTCAGATCATTATCAGCCTGTGCCACGATTGCAGGAGTCCCTGCCATCATGTTTACAGAGGACAGTATTTGTGGGGAGGGATTTGGGGCTCAGAGTGGGGTAGGTTGGGAGAATGTCAGTATGTGGAAGTGTGGGTCTGTGTGTGTGTATGTGGGGGTCTGTGTGTTTATGTGTGTGTGTTGTGTGTGGGAGTGTGTAATTTAAAATTGTGATGTGTCCTGATAAGCTGAGCTCCTTAGCCTTTGTCCCAGAATGCCTCCTGCAGGGATTCTTCCTGCTTAGCTTGAGGGTGACTATGGAGCTGAGCAGGTGTTCTTCATTACCTCAGTGAGAAGCCAGCTTTCCTCATCAGGCCATTGTCCCTGAAGAGAAGGGCAGGGCTGAGGCCTCTCATTCCAGAGGAAGGGACACCAAGCCTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000259207-'15-14,'15-13,16-14=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF079657=Integrin_B_tail=FE(47.1=100)
A:
PF079657=Integrin_B_tail=PD(7.1=10.7),PF087256=Integrin_b_cyt=PU(53.2=44.6)
C2:
PF087256=Integrin_b_cyt=PD(42.6=90.9)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAGGATGACTGTGTCGTCAGA
R:
ACTCTGAGCCCCAAATCCCTC
Band lengths:
257-424
Functional annotations
There are 5 annotated functions for this event
PMID: 12535520
Partially encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: . ELM ID: ELMI001559; ELM sequence: TANNPLYK; Overlap: PARTIAL_RIGHT
PMID: 12606711
Partially encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning, surface plasmon resonance. ELM ID: ELMI001539; ELM sequence: TANNPLY; Overlap: PARTIAL_RIGHT
PMID: 18156175
Partially encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: . ELM ID: ELMI001539; ELM sequence: TANNPLY; Overlap: PARTIAL_RIGHT
PMID: 18156175
Partially encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: . ELM ID: ELMI001559; ELM sequence: TANNPLYK; Overlap: PARTIAL_RIGHT
PMID: 20739287
Partially encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: . ELM ID: ELMI001539; ELM sequence: TANNPLY; Overlap: PARTIAL_RIGHT
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains