HsaEX6040970 @ hg38
Exon Skipping
Gene
ENSG00000198542 | ITGBL1
Description
integrin subunit beta like 1 [Source:HGNC Symbol;Acc:HGNC:6164]
Coordinates
chr13:101575424-101583356:+
Coord C1 exon
chr13:101575424-101575546
Coord A exon
chr13:101579287-101579427
Coord C2 exon
chr13:101583216-101583356
Length
141 bp
Sequences
Splice sites
3' ss Seq
AAAATTCATTTTGGGTAAAGGCC
3' ss Score
0.04
5' ss Seq
GAGGTGTGT
5' ss Score
6.14
Exon sequences
Seq C1 exon
GTACATGTCACTGTGGCAGGTGTAAGTGTGATAATTCAGATGGAAGTGGACTTGTGTATGGTAAATTTTGTGAGTGTGACGATAGAGAATGCATAGACGATGAAACAGAAGAAATATGTGGAG
Seq A exon
GCCATGGGAAGTGTTACTGTGGAAACTGCTACTGCAAGGCTGGTTGGCATGGAGATAAATGTGAATTCCAGTGCGATATCACCCCCTGGGAAAGCAAGCGAAGATGCACGTCTCCAGATGGCAAAATCTGCAGTAACAGAG
Seq C2 exon
GGACTTGTGTATGTGGTGAATGTACCTGTCACGATGTTGATCCGACTGGGGACTGGGGAGATATTCATGGGGACACCTGTGAATGTGATGAGAGGGACTGTAGAGCTGTCTATGACCGATATTCTGATGACTTCTGTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198542-'12-14,'12-13,13-14
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF079748=EGF_2=PD(63.9=54.8),PF079748=EGF_2=PU(34.4=26.2)
A:
PF079748=EGF_2=PD(62.5=41.7),PF079748=EGF_2=PU(30.8=25.0)
C2:
PF079748=EGF_2=PD(66.7=54.2),PF079748=EGF_2=PU(40.0=29.2)
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:
CACTGTGGCAGGTGTAAGTGT
R:
TCAGAATATCGGTCATAGACAGCTCT
Band lengths:
242-383
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains