Special

HsaEX1023465 @ hg38

Exon Skipping

Gene
ENSG00000123600 | METTL8
Description
methyltransferase like 8 [Source:HGNC Symbol;Acc:HGNC:25856]
Coordinates
chr2:171325841-171330698:-
Coord C1 exon
chr2:171330559-171330698
Coord A exon
chr2:171328042-171328205
Coord C2 exon
chr2:171325841-171325906
Length
164 bp
Sequences
Splice sites
3' ss Seq
TCTCCTCTCCCTCTATCCAGAGA
3' ss Score
10.21
5' ss Seq
AAAGTAGCT
5' ss Score
-0.07
Exon sequences
Seq C1 exon
TCACACTCGTCCTACAGAGCAACCCAGTGTTTTGCCTTTGTTCATGATGTATGTGATGATGGCTTACCTTACCCTTTTCCAGATGGGATCCTGGATGTCATTCTCCTTGTCTTTGTGCTCTCTTCTATTCATCCTGACAG
Seq A exon
AGATAAGTGAAGACAGCAGAGTTGGCCCAAGTAGGATGAAGAAAGAAAAGGGGCTTCATACCATTCCTGTCTTGTCCATCTCACCCCCAGCCCACTCCCACCTGCAGTTCTCAGGAATTGGCTCGGGAACTGCACTATGAACCAAGATGAGATGAGCAAGAAAA
Seq C2 exon
GACATTGTTTATCTGAAAATTTTTATGTTCGAGGAGATGGTACCAGAGCATATTTCTTTACAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123600_MULTIEX1-8/10=7-10
Average complexity
C2
Mappability confidence:
97%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF082427=Methyltransf_12=FE(43.8=100)
A:
PF136491=Methyltransf_25=PD(0.1=0.0)
C2:
PF136491=Methyltransf_25=PD(2.2=33.3)


Main Inclusion Isoform:
ENST00000375258fB19851


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCACACTCGTCCTACAGAGCA
R:
TGTAAAGAAATATGCTCTGGTACCA
Band lengths:
202-366
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains