Special

HsaEX0036954 @ hg38

Exon Skipping

Gene
Description
latent transforming growth factor beta binding protein 4 [Source:HGNC Symbol;Acc:HGNC:6717]
Coordinates
chr19:40606404-40608369:+
Coord C1 exon
chr19:40606404-40606526
Coord A exon
chr19:40607365-40607529
Coord C2 exon
chr19:40608220-40608369
Length
165 bp
Sequences
Splice sites
3' ss Seq
TTCCTCCCTGCTCCTCGCAGCCC
3' ss Score
9.44
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
ATGTGGATGAGTGCGCGACTGGCGGGCGCTGCCAGCACGGCGAGTGTGCAAACACGCGCGGCGGGTACACGTGTGTGTGCCCCGACGGCTTTCTGCTCGACTCGTCCCGCAGCAGCTGCATCT
Seq A exon
CCCAACACGTGATCTCAGAGGCCAAAGGGCCCTGCTTCCGCGTGCTCCGCGACGGCGGCTGTTCGCTGCCCATTCTGCGGAACATCACTAAACAGATCTGCTGCTGCAGCCGCGTAGGCAAGGCCTGGGGCCGGGGCTGCCAGCTCTGCCCACCCTTCGGCTCAG
Seq C2 exon
AGGGTTTCCGGGAGATCTGCCCGGCTGGTCCTGGTTACCACTACTCGGCCTCCGACCTCCGCTACAACACCAGACCCCTGGGCCAGGAGCCACCCCGAGTGTCACTCAGCCAGCCTCGTACCCTGCCAGCCACCTCTCGGCCATCTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090006_MULTIEX1-6/12=5-7
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=0.549
Domain overlap (PFAM):

C1:
PF0764510=EGF_CA=WD(100=95.2)
A:
PF0068312=TB=PU(86.0=66.1)
C2:
PF0068312=TB=PD(11.6=9.8)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGTGGATGAGTGCGCGAC
R:
TACGAGGCTGGCTGAGTGAC
Band lengths:
243-408
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development