Special

HsaEX0038938 @ hg38

Exon Skipping

Gene
ENSG00000123600 | METTL8
Description
methyltransferase like 8 [Source:HGNC Symbol;Acc:HGNC:25856]
Coordinates
chr2:171325841-171337502:-
Coord C1 exon
chr2:171337453-171337502
Coord A exon
chr2:171326042-171326148
Coord C2 exon
chr2:171325841-171325906
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
GTTGGTTGTGGAGCTGGAAATAGTGTGTTTCCAATTTTGAACACTTTGGA
Seq A exon
GATGCAAGGTGTTGTAAACCGACTGTCCAAGTTACTGAAACCTGGGGGAATGCTGTTATTTCGAGACTATGGAAGATATGATAAGACTCAGCTTCGTTTTAAAAAGG
Seq C2 exon
GACATTGTTTATCTGAAAATTTTTATGTTCGAGGAGATGGTACCAGAGCATATTTCTTTACAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123600_MULTIEX1-9/10=5-10
Average complexity
S
Mappability confidence:
100%=90=100%
Protein Impact

Alternative protein isoforms (No Ref, Alt. Stop)

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

C1:
PF082427=Methyltransf_12=FE(15.2=100)
A:
PF082427=Methyltransf_12=PD(17.1=48.6)
C2:
PF136491=Methyltransf_25=PD(2.2=33.3)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTGGTTGTGGAGCTGGAAAT
R:
TTTGTAAAGAAATATGCTCTGGTACC
Band lengths:
114-221
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