Special

HsaEX0040457 @ hg38

Exon Skipping

Gene
Description
metal response element binding transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:29535]
Coordinates
chr1:93079235-93110626:+
Coord C1 exon
chr1:93079235-93079531
Coord A exon
chr1:93110230-93110428
Coord C2 exon
chr1:93110545-93110626
Length
199 bp
Sequences
Splice sites
3' ss Seq
GTCTTTTATTCTCTAAACAGAGA
3' ss Score
9.06
5' ss Seq
AAGGCAAGT
5' ss Score
3.24
Exon sequences
Seq C1 exon
GCTGCCATTCGGCACCGGAGTCGCTCCGCGCTCCCAGAATGCACCGGCAGTCCGCGGGAAACCAAAATGGCGAGGGGCTGTATTGAAGTGGGCTGTGTTTGAGGCCGGTGTAAGAACGCTCATTCTACCCCCAACCCTTGTCTCCAAGGACCTCGGTTTGTGCGTGCATATGTGCCGGGTACCCGGTGGGGCGGGTGCCCAGTAAGTGCTCGGACTCGCAGGGGAAGCGCCCACGGGGACGGATTGGTTGTTTTTTCCTGTATGAAGCGGTTGGCACCACTGAAGTGACCGAATGAG
Seq A exon
AGACTCTACAGGGGCAGGTAATTCACTGGTCCACAAGCGGTCTCCTTTACGTCGAAACCAAAAGACCCCAACATCCTTGACCAAGCTGTCTTTACAGGATGGACATAAAGCCAAAAAGCCAGCATGTAAATTTGAAGAGGGTCAGGATGTCCTAGCTAGATGGTCAGATGGCTTGTTTTATCTTGGCACTATCAAAAAG
Seq C2 exon
ATAAACATATTGAAACAGAGCTGCTTCATCATATTTGAAGACAGTTCTAAATCCTGGGTTCTCTGGAAGGACATTCAAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143033-'0-15,'0-10,13-15
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show structural model
Features
Disorder rate (Iupred):
  C1=0.400 A=0.329 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF150571=DUF4537=PU(31.7=28.4)
C2:
PF150571=DUF4537=FE(45.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000370298fB31217


Other Inclusion Isoforms:


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:
AGAACGCTCATTCTACCCCCA
R:
TGTCCTTCCAGAGAACCCAGG
Band lengths:
258-457
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