Special

HsaEX0044838 @ hg38

Exon Skipping

Gene
Description
origin recognition complex subunit 4 [Source:HGNC Symbol;Acc:HGNC:8490]
Coordinates
chr2:147943436-147972829:-
Coord C1 exon
chr2:147972739-147972829
Coord A exon
chr2:147955347-147955395
Coord C2 exon
chr2:147943436-147943522
Length
49 bp
Sequences
Splice sites
3' ss Seq
TATCTCATTTTGTTGTTCAGGGA
3' ss Score
7.83
5' ss Seq
AAGGTAAAT
5' ss Score
8.88
Exon sequences
Seq C1 exon
ACACTTAAGTGAGCTGCTGAAAAGAACTGCTCTCCATGGAGAGAGTAACTCTGTCCTTATTATCGGACCCCGAGGATCAGGAAAAACTATG
Seq A exon
GGAAGCTTTGCTGAAAACCTTTCATTTCTTCTGGAAGCTTTAAAAAAAG
Seq C2 exon
TATCTCTCAGAAGATAGAAGTGTGCAAGAAGTACTACAGAAGCATTTCAATATCAGCAAAAACCTGCGGTCATTACACATGCTATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115947_MULTIEX1-4/7=C1-7
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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

C1:
PF131911=AAA_16=FE(19.4=100)
A:
PF131911=AAA_16=PD(11.2=70.6)
C2:
PF146291=ORC4_C=FE(14.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCTGCTGAAAAGAACTGCTCT
R:
CGCAGGTTTTTGCTGATATTGA
Band lengths:
148-197
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