HsaEX0038938 @ hg19
Exon Skipping
Gene
ENSG00000123600 | METTL8
Description
methyltransferase like 8 [Source:HGNC Symbol;Acc:25856]
Coordinates
chr2:172182351-172183575:-
Coord C1 exon
chr2:172183514-172183575
Coord A exon
chr2:172182552-172182658
Coord C2 exon
chr2:172182351-172182416
Length
107 bp
Sequences
Splice sites
3' ss Seq
TTAATACTTTGTTTCCAAAGGAT
3' ss Score
8.15
5' ss Seq
AGGGTAATA
5' ss Score
5.47
Exon sequences
Seq C1 exon
GCTGCTCAGGGCCAAGCATGACAGTTTGGCTAGGGGAGCTGCTTCAGATTGGAAAGCTGTTG
Seq A exon
GATGCAAGGTGTTGTAAACCGACTGTCCAAGTTACTGAAACCTGGGGGAATGCTGTTATTTCGAGACTATGGAAGATATGATAAGACTCAGCTTCGTTTTAAAAAGG
Seq C2 exon
GACATTGTTTATCTGAAAATTTTTATGTTCGAGGAGATGGTACCAGAGCATATTTCTTTACAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123600-'20-26,'20-25,21-26
Average complexity
C1
Mappability confidence:
100%=75=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
PF082427=Methyltransf_12=PD(17.1=48.6)
C2:
PF136491=Methyltransf_25=PD(2.2=33.3)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCAGGGCCAAGCATGACAG
R:
TTTGTAAAGAAATATGCTCTGGTACC
Band lengths:
122-229
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)