Special

HsaEX0036957 @ hg38

Exon Skipping

Gene
Description
latent transforming growth factor beta binding protein 4 [Source:HGNC Symbol;Acc:HGNC:6717]
Coordinates
chr19:40623604-40626009:+
Coord C1 exon
chr19:40623604-40623732
Coord A exon
chr19:40623936-40624082
Coord C2 exon
chr19:40625857-40626009
Length
147 bp
Sequences
Splice sites
3' ss Seq
CTTAATCATCCTCTCCCTAGACA
3' ss Score
8.7
5' ss Seq
TCGGTAACC
5' ss Score
5.34
Exon sequences
Seq C1 exon
ACGTGGACGAATGTCAGCTCTTCCGAGACCAGGTGTGCAAGAGTGGCGTGTGTGTGAACACGGCCCCGGGCTACTCATGCTATTGCAGCAACGGCTACTACTACCACACACAGCGGCTGGAGTGCATCG
Seq A exon
ACAATGACGAGTGCGCCGATGAGGAACCGGCCTGTGAGGGCGGCCGCTGTGTCAACACTGTGGGCTCTTATCACTGTACCTGCGAGCCCCCACTGGTGCTGGATGGCTCGCAGCGCCGCTGCGTCTCCAACGAGAGCCAGAGCCTCG
Seq C2 exon
ATGACAATCTGGGAGTGTGCTGGCAGGAAGTGGGGGCTGACCTCGTGTGCAGCCACCCTCGGCTGGACCGTCAGGCCACCTACACAGAGTGCTGCTGCCTGTATGGAGAGGCCTGGGGCATGGACTGCGCCCTCTGCCCTGCGCAGGACTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090006_MULTIEX2-4/4=3-C2
Average complexity
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:
PF0764510=EGF_CA=WD(100=95.5),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=82.0)
C2:
PF0068312=TB=PU(86.0=71.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACGAATGTCAGCTCTTCCGA
R:
CCCCAGGCCTCTCCATACAG
Band lengths:
242-389
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