Special

HsaEX6040969 @ hg19

Exon Skipping

Gene
ENSG00000198542 | ITGBL1
Description
integrin, beta-like 1 (with EGF-like repeat domains) [Source:HGNC Symbol;Acc:6164]
Coordinates
chr13:102235566-102345051:+
Coord C1 exon
chr13:102235566-102235706
Coord A exon
chr13:102250503-102250649
Coord C2 exon
chr13:102344935-102345051
Length
147 bp
Sequences
Splice sites
3' ss Seq
TTGCCACTCTCACTGTGAAGGTC
3' ss Score
7.55
5' ss Seq
GGGGTAAGT
5' ss Score
9.65
Exon sequences
Seq C1 exon
GGACTTGTGTATGTGGTGAATGTACCTGTCACGATGTTGATCCGACTGGGGACTGGGGAGATATTCATGGGGACACCTGTGAATGTGATGAGAGGGACTGTAGAGCTGTCTATGACCGATATTCTGATGACTTCTGTTCAG
Seq A exon
GTCATGGACAGTGTAATTGCGGAAGATGTGACTGCAAAGCAGGCTGGTATGGGAAGAAGTGTGAGCACCCACAGTCCTGCACGCTGTCAGCTGAGGAGAGCATCAGGAAGTGCCAGGGAAGCTCGGATCTGCCTTGCTCTGGGAGGG
Seq C2 exon
GTAAATGTGAATGTGGCAAATGCACCTGCTATCCTCCAGGAGATCGCCGGGTGTATGGCAAGACTTGTGAGTGTGATGATCGCCGCTGTGAAGACCTCGATGGTGTGGTCTGTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198542-'8-13,'8-10,9-13=AN
Average complexity
A_S
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(66.7=54.2),PF079748=EGF_2=PU(40.0=29.2)
A:
PF079748=EGF_2=PD(57.1=40.0),PF079748=EGF_2=PU(34.3=24.0)
C2:
PF079748=EGF_2=PD(62.9=55.0),PF079748=EGF_2=PU(32.3=25.0)


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:
TGTGGTGAATGTACCTGTCACG
R:
TCCACAGACCACACCATCGAG
Band lengths:
246-393
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains