Special

HsaEX0036952 @ hg19

Exon Skipping

Gene
Description
latent transforming growth factor beta binding protein 4 [Source:HGNC Symbol;Acc:6717]
Coordinates
chr19:41122795-41125398:+
Coord C1 exon
chr19:41122795-41122926
Coord A exon
chr19:41123006-41123130
Coord C2 exon
chr19:41125252-41125398
Length
125 bp
Sequences
Splice sites
3' ss Seq
TGACTGTCTGGTGGTTGCAGATG
3' ss Score
7.85
5' ss Seq
TGGGTACGG
5' ss Score
6.54
Exon sequences
Seq C1 exon
ATGTGGATGAGTGCCAAGAATATGGTCCCGAGATTTGTGGAGCCCAGCGTTGTGAGAACACCCCTGGCTCCTACCGCTGCACACCAGCCTGTGACCCTGGCTATCAGCCCACGCCAGGGGGCGGATGCCAGG
Seq A exon
ATGTGGACGAATGCCGGAACCGGTCCTTCTGCGGTGCCCACGCCGTGTGCCAGAACCTGCCCGGCTCCTTCCAGTGCCTCTGTGACCAGGTTACGAGGGGGCACGGGATGGGCGTCACTGCGTGG
Seq C2 exon
ATGTGAACGAGTGTGAAACACTACAGGGTGTATGTGGAGCTGCCCTGTGTGAAAATGTCGAAGGCTCCTTCCTCTGTGTCTGCCCCAACAGCCCGGAAGAGTTTGACCCCATGACTGGACGCTGTGTTCCCCCACGAACTTCTGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090006_MULTIEX1-17/22=16-18
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.158
Domain overlap (PFAM):

C1:
PF0764510=EGF_CA=WD(100=95.6),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=PU(72.5=96.7)
C2:
PF0764510=EGF_CA=WD(100=84.0),PF0764510=EGF_CA=PU(0.1=0.0)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGGTCCCGAGATTTGTGGAG
R:
CAGAAGTTCGTGGGGGAACAC
Band lengths:
255-380
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