Special

HsaEX0036883 @ hg38

Exon Skipping

Gene
Description
latent transforming growth factor beta binding protein 1 [Source:HGNC Symbol;Acc:HGNC:6714]
Coordinates
chr2:33110582-33187080:+
Coord C1 exon
chr2:33110582-33110751
Coord A exon
chr2:33134793-33134960
Coord C2 exon
chr2:33186856-33187080
Length
168 bp
Sequences
Splice sites
3' ss Seq
CTCCCTGCCTCCGCTCCTAGTGA
3' ss Score
8.99
5' ss Seq
TGGGTGAGT
5' ss Score
8.73
Exon sequences
Seq C1 exon
AGTGACTCCTCTTTCTTCCCAGAGTGTGGTGATTCACCATGGCCAGACCCAGGAATACGTGCTCAAGCCCAAGTACTTTCCAGCCCAGAAGGGGATTTCAGGAGAGCAGTCCACTGAAGGTTCTTTCCCTTTAAGATATGTGCAGGATCAAGTTGCGGCACCTTTTCAGC
Seq A exon
TGAGTAACCACACTGGCCGCATCAAGGTGGTCTTTACTCCGAGCATCTGTAAAGTGACCTGCACCAAGGGCAGCTGTCAGAACAGCTGTGAGAAGGGGAACACCACCACTCTCATTAGTGAGAATGGTCATGCTGCCGACACCCTGACGGCCACGAACTTCCGAGTGG
Seq C2 exon
TAATTTGCCATCTTCCATGTATGAATGGTGGCCAGTGCAGTTCAAGGGACAAATGTCAGTGCCCTCCAAATTTCACAGGAAAACTTTGTCAGATCCCAGTCCATGGTGCCAGCGTGCCTAAACTTTATCAGCATTCCCAGCAGCCAGGCAAGGCGTTGGGGACGCATGTCATCCATTCAACACATACCTTGCCTCTGACCGTGACTAGCCAGCAAGGAGTCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000049323_MULTIEX4-2/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.167 A=0.068 C2=0.193
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0000822=EGF=WD(100=35.5)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000404816fB19200


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:
CAAGTTGCGGCACCTTTTCAG
R:
TGACTCCTTGCTGGCTAGTCA
Band lengths:
244-412
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