Special

HsaEX0032495 @ hg19

Exon Skipping

Gene
ENSG00000198542 | ITGBL1
Description
integrin, beta-like 1 (with EGF-like repeat domains) [Source:HGNC Symbol;Acc:6164]
Coordinates
chr13:102220050-102231778:+
Coord C1 exon
chr13:102220050-102220196
Coord A exon
chr13:102227775-102227897
Coord C2 exon
chr13:102231638-102231778
Length
123 bp
Sequences
Splice sites
3' ss Seq
TTTTTGTTTTCATGGTTTAGGTA
3' ss Score
9.57
5' ss Seq
GAGGTATGT
5' ss Score
9.81
Exon sequences
Seq C1 exon
GCCATGGTAAGTGTGACTGTGGCAAGTGCAAGTGTGACCAGGGATGGTATGGGGATGCTTGCCAGTACCCAACTAACTGTGACTTGACAAAGAAGAAAAGTAACCAAATGTGCAAGAATTCACAAGACATCATCTGCTCTAATGCAG
Seq A exon
GTACATGTCACTGTGGCAGGTGTAAGTGTGATAATTCAGATGGAAGTGGACTTGTGTATGGTAAATTTTGTGAGTGTGACGATAGAGAATGCATAGACGATGAAACAGAAGAAATATGTGGAG
Seq C2 exon
GCCATGGGAAGTGTTACTGTGGAAACTGCTACTGCAAGGCTGGTTGGCATGGAGATAAATGTGAATTCCAGTGCGATATCACCCCCTGGGAAAGCAAGCGAAGATGCACGTCTCCAGATGGCAAAATCTGCAGTAACAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198542-'4-7,'4-6,6-7
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

Show structural model
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF079748=EGF_2=PD(64.5=40.0),PF079748=EGF_2=PU(33.3=24.0)
A:
PF079748=EGF_2=PD(63.9=54.8),PF079748=EGF_2=PU(34.4=26.2)
C2:
PF079748=EGF_2=PD(62.5=41.7),PF079748=EGF_2=PU(30.8=25.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TGACTGTGGCAAGTGCAAGTG
R:
CGTGCATCTTCGCTTGCTTTC
Band lengths:
244-367
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development