Special

HsaEX6040970 @ hg19

Exon Skipping

Gene
ENSG00000198542 | ITGBL1
Description
integrin, beta-like 1 (with EGF-like repeat domains) [Source:HGNC Symbol;Acc:6164]
Coordinates
chr13:102227775-102235706:+
Coord C1 exon
chr13:102227775-102227897
Coord A exon
chr13:102231638-102231778
Coord C2 exon
chr13:102235566-102235706
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-'6-8,'6-7,7-8=AN
Average complexity
A_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 Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
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