Special

HsaEX0038940 @ hg19

Exon Skipping

Gene
ENSG00000123600 | METTL8
Description
methyltransferase like 8 [Source:HGNC Symbol;Acc:25856]
Coordinates
chr2:172195694-172248707:-
Coord C1 exon
chr2:172248553-172248707
Coord A exon
chr2:172216932-172217023
Coord C2 exon
chr2:172195694-172196064
Length
92 bp
Sequences
Splice sites
3' ss Seq
AGTCTATTTTTTTTTAATAGGGA
3' ss Score
7.37
5' ss Seq
AAGGTAGTC
5' ss Score
5.64
Exon sequences
Seq C1 exon
GTACTGCTTAGGATGAATATGATTTGGAGAAATTCCATTTCTTGTCTAAGGCTAGGAAAGGTGCCACACAGATACCAAAGTGGTTACCACCCAGTGGCCCCTCTGGGATCAAGGATTTTAACTGACCCAGCCAAAGTTTTTGAACACAACATGTG
Seq A exon
GGATCACATGCAGTGGTCTAAGGAAGAAGAAGCAGCAGCCAGAAAAAAAGTAAAAGAAAACTCAGCTGTGCGAGTCCTTCTGGAAGAGCAAG
Seq C2 exon
TTAAGTATGAGAGAGAAGCTAGTAAATACTGGGACACATTTTACAAGATTCATAAGAATAAGTTTTTCAAGGATCGTAATTGGCTGTTGAGGGAATTTCCTGAAATTCTTCCAGTTGATCAAAAACCTGAAGAGAAGGCGAGAGAATCATCATGGGATCATGTAAAAACTAGTGCTACAAATCGTTTCTCAAGAATGCACTGTCCTACTGTGCCTGATGAAAAAAATCATTATGAGAAAAGTTCTGGTTCTTCAGAAGGTCAAAGCAAAACAGAATCTGATTTTTCCAACCTAGACTCTGAAAAACACAAAAAAGGACCTATGGAGACTGGATTGTTTCCTGGTAGCAATGCCACTTTCAGGATACTAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123600_MULTIEX1-4/9=3-5
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.177 C2=0.447
Domain overlap (PFAM):

C1:
PF0033717=Gal-bind_lectin=PU(24.3=37.5)
A:
PF0033717=Gal-bind_lectin=FE(41.9=100)
C2:
PF134891=Methyltransf_23=PU(10.4=80.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTGACCCAGCCAAAGTTTTTGA
R:
TCTCTCGCCTTCTCTTCAGGT
Band lengths:
180-272
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development