Special

HsaEX0040457 @ hg19

Exon Skipping

Gene
Description
metal response element binding transcription factor 2 [Source:HGNC Symbol;Acc:29535]
Coordinates
chr1:93544795-93580340:+
Coord C1 exon
chr1:93544795-93545088
Coord A exon
chr1:93575787-93575803
Coord C2 exon
chr1:93580245-93580340
Length
17 bp
Sequences
Splice sites
3' ss Seq
GTCTTTTATTCTCTAAACAGAGA
3' ss Score
9.06
5' ss Seq
CAGGTAATT
5' ss Score
8.55
Exon sequences
Seq C1 exon
GCCATTCGGCACCGGAGTCGCTCCGCGCTCCCAGAATGCACCGGCAGTCCGCGGGAAACCAAAATGGCGAGGGGCTGTATTGAAGTGGGCTGTGTTTGAGGCCGGTGTAAGAACGCTCATTCTACCCCCAACCCTTGTCTCCAAGGACCTCGGTTTGTGCGTGCATATGTGCCGGGTACCCGGTGGGGCGGGTGCCCAGTAAGTGCTCGGACTCGCAGGGGAAGCGCCCACGGGGACGGATTGGTTGTTTTTTCCTGTATGAAGCGGTTGGCACCACTGAAGTGACCGAATGAG
Seq A exon
AGACTCTACAGGGGCAG
Seq C2 exon
GAGCCACTGGAAGTGGGGAAATGGTCTGTACAATATGTCAAGAAGAGTATTCAGAAGCTCCCAATGAAATGGTTATATGTGACAAGTGTGGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143033_MULTIEX1-2/4=C1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

In the CDS, with uncertain impact

Show structural model
Features
Disorder rate (Iupred):
  C1=0.312 A=0.343 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF150571=DUF4537=PU(31.1=28.4)
C2:
PF150571=DUF4537=PD(23.8=45.5),PF0013017=C1_1=FE(61.5=100),PF144461=Prok-RING_1=PU(50.0=84.8),PF0062824=PHD=PU(44.4=72.7)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTCCTGTATGAAGCGGTTGGC
R:
ACCATTTCATTGGGAGCTTCTGA
Band lengths:
116-133
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Autistic and control brains
  • Pre-implantation embryo development