Special

HsaEX0040460 @ hg38

Exon Skipping

Gene
Description
metal response element binding transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:29535]
Coordinates
chr1:93119333-93127299:+
Coord C1 exon
chr1:93119333-93119401
Coord A exon
chr1:93120549-93120672
Coord C2 exon
chr1:93127232-93127299
Length
124 bp
Sequences
Splice sites
3' ss Seq
TGATTATTTTCGGATTCCAGGGT
3' ss Score
6.38
5' ss Seq
GAGGTAGGT
5' ss Score
9.65
Exon sequences
Seq C1 exon
ATTTTATACGTTTATATGCTCTGTCTGCAGTTCTGGACCAGAATACCTCAAACGTCTACCATTACAGTG
Seq A exon
GGTAGATATAGCACACCTATGCCTTTACAACCTAAGTGTTATTCATAAGAAGAAATACTTTGATTCTGAACTTGAGCTTATGACATACATTAATGAAAACTGGGATAGATTGCACCCTGGAGAG
Seq C2 exon
CTGGCAGACACACCAAAATCTGAAAGATATGAGCATGTTCTGGAGGCATTAAATGATTACAAGACCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143033_MULTIEX3-1/4=C1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show structural model
Features
Disorder rate (Iupred):
  C1=0.000 A=0.005 C2=0.011
Domain overlap (PFAM):

C1:
PF0062824=PHD=PD(22.6=50.0)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TACGTTTATATGCTCTGTCTGCAGT
R:
TGGTCTTGTAATCATTTAATGCCTCC
Band lengths:
130-254
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