HsaEX6066789 @ hg38
Exon Skipping
Gene
ENSG00000139626 | ITGB7
Description
integrin subunit beta 7 [Source:HGNC Symbol;Acc:HGNC:6162]
Coordinates
chr12:53191318-53192538:-
Coord C1 exon
chr12:53192330-53192538
Coord A exon
chr12:53191859-53192019
Coord C2 exon
chr12:53191318-53191636
Length
161 bp
Sequences
Splice sites
3' ss Seq
GTCTGGTTTCTTGTTCACAGAGG
3' ss Score
7.92
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
GGACTGTGCAGAGTGTGGGGCCTTCAGGACTGGCCCACTGGCCACCAACTGCAGTACAGCTTGTGCCCATACCAATGTGACCCTGGCCTTGGCCCCTATCTTGGATGATGGCTGGTGCAAAGAGCGGACCCTGGACAACCAGCTGTTCTTCTTCTTGGTGGAGGATGACGCCAGAGGCACGGTCGTGCTCAGAGTGAGACCCCAAGAAA
Seq A exon
AGGGAGCAGACCACACGCAGGCCATTGTGCTGGGCTGCGTAGGGGGCATCGTGGCAGTGGGGCTGGGGCTGGTCCTGGCTTACCGGCTCTCGGTGGAAATCTATGACCGCCGGGAATACAGTCGCTTTGAGAAGGAGCAGCAACAACTCAACTGGAAGCAG
Seq C2 exon
GACAGTAATCCTCTCTACAAAAGTGCCATCACGACCACCATCAATCCTCGCTTTCAAGAGGCAGACAGTCCCACTCTCTGAAGGAGGGAGGGACACTTACCCAAGGCTCTTCTCCTTGGAGGACAGTGGGAACTGGAGGGTGAGAGGAAGGGTGGGTCTGTAAGACCTTGGTAGGGGACTAATTCACTGGCGAGGTGCGGCCACCACCCTACTTCATTTTCAGAGTGACACCCAAGAGGGCTGCTTCCCATGCCTGCAACCTTGCATCCATCTGGGCTACCCCACCCAAGTATACAATAAAGTCTTACCTCAGACCACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139626-'41-32,'41-30,42-32=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=0.015 A=0.000 C2=0.115
Domain overlap (PFAM):
C1:
PF079657=Integrin_B_tail=FE(87.5=100)
A:
PF079657=Integrin_B_tail=PD(6.2=9.3),PF087256=Integrin_b_cyt=PU(53.2=46.3)
C2:
PF087256=Integrin_b_cyt=PD(42.6=74.1)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCTTGGTGGAGGATGACGC
R:
TCGCCAGTGAATTAGTCCCCT
Band lengths:
252-413
Functional annotations
There are 1 annotated functions for this event
PMID: 12606711
Partially encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning, surface plasmon resonance. ELM ID: ELMI001554; ELM sequence: QDSNPLYK; Overlap: PARTIAL_RIGHT
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains