HsaEX1030936 @ hg38
Exon Skipping
Gene
ENSG00000056586 | RC3H2
Description
ring finger and CCCH-type domains 2 [Source:HGNC Symbol;Acc:HGNC:21461]
Coordinates
chr9:122890312-122893026:-
Coord C1 exon
chr9:122892909-122893026
Coord A exon
chr9:122892362-122892722
Coord C2 exon
chr9:122890312-122890545
Length
361 bp
Sequences
Splice sites
3' ss Seq
TAACCAATATTGTTATTAAGAAT
3' ss Score
2.17
5' ss Seq
AAGGTGGGT
5' ss Score
8.23
Exon sequences
Seq C1 exon
GTACCAGATCATCAGTCAATTAAGTTAAGTAATCTAGGTGAGAATAAACACTATGAGGTTGCAAAGAAATGCGTTGAGGATTTGGCACTCTACTTAAAACCACTAAGTGGAGGTAAAG
Seq A exon
AATTCAAGCTAGAGCCGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAGCGCGGGCGGATCACAAGATCAGAAGATCGAGACTATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTCTTGGCAGGCACCTGTAGTTCCAGCTATTCCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTGGGGCGACAGAGCAAGACTGTCTCAAAAAAAAAAGAATTCAAGCTGGGTGTGGTGGCTTCATGCCTGTAATCTGAGCACTTTATAAGGCTAAG
Seq C2 exon
GTGTAGCTAGCTTGAACCAGAGTGCACTGAGCCGTCCAATGCAAAGGAAACTGGTGACACTTGTAAACTGTCAACTGGTGGAGGAAGAAGGTCGTGTAAGAGCCATGCGAGCAGCTCGTTCCCTTGGAGAAAGAACTGTAACAGAACTGATATTACAGCACCAGAACCCTCAGCAGTTGTCTGCCAATCTATGGGCCGCTGTCAGGGCTCGAGGATGCCAGTTTTTAGGGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000056586_MULTIEX3-3/7=2-5
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.543 C2=0.000
Domain overlap (PFAM):
C1:
PF0136316=FYVE=PD(27.9=72.5)
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000357244fB24321
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
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:
GTACCAGATCATCAGTCAATTAAGTT
R:
AAAAACTGGCATCCTCGAGCC
Band lengths:
344-705
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains