Special

HsaEX0038936 @ hg19

Exon Skipping

Gene
ENSG00000123600 | METTL8
Description
methyltransferase like 8 [Source:HGNC Symbol;Acc:25856]
Coordinates
chr2:172216932-172290619:-
Coord C1 exon
chr2:172290393-172290619
Coord A exon
chr2:172248553-172248707
Coord C2 exon
chr2:172216932-172217023
Length
155 bp
Sequences
Splice sites
3' ss Seq
AATCATTTGTAACTTTTTAGGTA
3' ss Score
8.36
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
Exon sequences
Seq C1 exon
CTTCTCTGTGCTGCGAGTGGCTAGCTGGGCAGAGCCCTGGGGGCGCGGTGCTGCCGCCTCCAGGTCTCCGCCCCGTGTGTGCGCCCTGCACTTAGGGATCCCTCCCTCACTGCCCCGGTACTCACAAGCTTCTCGGCCCCGACCTTCGCCCTGGGAGGTTCTGGCCAGGTGCCGGGAGGGGCGCTGTGTCGAGGGCGATCCCCCCAAAGCAGCGTCCCGTGCTAAAG
Seq A exon
GTACTGCTTAGGATGAATATGATTTGGAGAAATTCCATTTCTTGTCTAAGGCTAGGAAAGGTGCCACACAGATACCAAAGTGGTTACCACCCAGTGGCCCCTCTGGGATCAAGGATTTTAACTGACCCAGCCAAAGTTTTTGAACACAACATGTG
Seq C2 exon
GGATCACATGCAGTGGTCTAAGGAAGAAGAAGCAGCAGCCAGAAAAAAAGTAAAAGAAAACTCAGCTGTGCGAGTCCTTCTGGAAGAGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123600-'1-9,'1-8,4-9
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref, Alt. ATG (>10 exons))

Show structural model
Features
Disorder rate (Iupred):
  C1=NA A=0.000 C2=0.177
Domain overlap (PFAM):

C1:
NA
A:
PF0033717=Gal-bind_lectin=PU(24.3=37.5)
C2:
PF0033717=Gal-bind_lectin=FE(41.9=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGTGGCTAGCTGGGCAGAG
R:
GGCTGCTGCTTCTTCTTCCTT
Band lengths:
253-408
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