HsaEX0032484 @ hg38
Exon Skipping
Gene
ENSG00000139626 | ITGB7
Description
integrin subunit beta 7 [Source:HGNC Symbol;Acc:HGNC:6162]
Coordinates
chr12:53192330-53193901:-
Coord C1 exon
chr12:53193708-53193901
Coord A exon
chr12:53193140-53193363
Coord C2 exon
chr12:53192330-53192538
Length
224 bp
Sequences
Splice sites
3' ss Seq
CCTTTGCCTTCCCCTTCCAGCTG
3' ss Score
12.35
5' ss Seq
GAGGTACCT
5' ss Score
7.63
Exon sequences
Seq C1 exon
GTGACTTTCTGGGTTTCTCTCCAAGCCACCCACTGCCTCCCAGAGCCCCATCTCCTGAGGCTCCGGGCCCTTGGCTTCTCAGAGGAGCTGATTGTGGAGTTGCACACGCTGTGTGACTGTAATTGCAGTGACACCCAGCCCCAGGCTCCCCACTGCAGTGATGGCCAGGGACACCTACAATGTGGTGTATGCAG
Seq A exon
CTGTGCCCCTGGCCGCCTAGGTCGGCTCTGTGAGTGCTCTGTGGCAGAGCTGTCCTCCCCAGACCTGGAATCTGGGTGCCGGGCTCCCAATGGCACAGGGCCCCTGTGCAGTGGAAAGGGTCACTGTCAATGTGGACGCTGCAGCTGCAGTGGACAGAGCTCTGGGCATCTGTGCGAGTGTGACGATGCCAGCTGTGAGCGACATGAGGGCATCCTCTGCGGAG
Seq C2 exon
GGACTGTGCAGAGTGTGGGGCCTTCAGGACTGGCCCACTGGCCACCAACTGCAGTACAGCTTGTGCCCATACCAATGTGACCCTGGCCTTGGCCCCTATCTTGGATGATGGCTGGTGCAAAGAGCGGACCCTGGACAACCAGCTGTTCTTCTTCTTGGTGGAGGATGACGCCAGAGGCACGGTCGTGCTCAGAGTGAGACCCCAAGAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139626_MULTIEX1-2/3=1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.015
Domain overlap (PFAM):
C1:
PF0036213=Integrin_beta=PD(9.1=60.0),PF079657=Integrin_B_tail=PU(5.0=6.2)
A:
NO
C2:
PF079657=Integrin_B_tail=FE(87.5=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTTCTCTCCAAGCCACCCAC
R:
TCTTTGCACCAGCCATCATCC
Band lengths:
305-529
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development