Special

HsaEX0038937 @ hg19

Exon Skipping

Gene
ENSG00000123600 | METTL8
Description
methyltransferase like 8 [Source:HGNC Symbol;Acc:25856]
Coordinates
chr2:172248553-172289626:-
Coord C1 exon
chr2:172289536-172289626
Coord A exon
chr2:172271113-172271236
Coord C2 exon
chr2:172248553-172248707
Length
124 bp
Sequences
Splice sites
3' ss Seq
ACCTTTTTTTTTTTTTTCAGAAA
3' ss Score
12.15
5' ss Seq
CAGGTACAC
5' ss Score
7.29
Exon sequences
Seq C1 exon
TGTCGTCGTGTCCAAGGGTTGGTTCCCACCTTGCACCCTGAGCTGAGGGGATAGGCTTCAGCCACCCTCGACCCTGAACTGGAATAATTAG
Seq A exon
AAACAGAGCCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATTATGGCTCACTGCAGTTTCAACCTCCCAGATTCCAGTCATCCTCCTGCCTCAGCCACCCAAGAAGCTGGGACCACAG
Seq C2 exon
GTACTGCTTAGGATGAATATGATTTGGAGAAATTCCATTTCTTGTCTAAGGCTAGGAAAGGTGCCACACAGATACCAAAGTGGTTACCACCCAGTGGCCCCTCTGGGATCAAGGATTTTAACTGACCCAGCCAAAGTTTTTGAACACAACATGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123600-'2-8,'2-7,3-8
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

5' UTR

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

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


Main Inclusion Isoform:
NA


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
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:
GTCGTCGTGTCCAAGGGTTG
R:
ACATGTTGTGTTCAAAAACTTTGGC
Band lengths:
244-368
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