Special

HsaEX0044836 @ hg19

Exon Skipping

Gene
Description
origin recognition complex, subunit 4 [Source:HGNC Symbol;Acc:8490]
Coordinates
chr2:148701005-148730398:-
Coord C1 exon
chr2:148730308-148730398
Coord A exon
chr2:148716360-148716435
Coord C2 exon
chr2:148701005-148701091
Length
76 bp
Sequences
Splice sites
3' ss Seq
CATAAACTTTTCATATTTAGTTA
3' ss Score
5.96
5' ss Seq
ATGGTAAGT
5' ss Score
11.01
Exon sequences
Seq C1 exon
ACACTTAAGTGAGCTGCTGAAAAGAACTGCTCTCCATGGAGAGAGTAACTCTGTCCTTATTATCGGACCCCGAGGATCAGGAAAAACTATG
Seq A exon
TTAATAAATCATGCTTTGAAAGAACTCATGGAAATAGAAGAAGTGAGTGAAAATGTATTACAAGTTCACTTAAATG
Seq C2 exon
TATCTCTCAGAAGATAGAAGTGTGCAAGAAGTACTACAGAAGCATTTCAATATCAGCAAAAACCTGCGGTCATTACACATGCTATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115947_MULTIEX3-2/6=C1-C2
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=FE(16.1=100)
C2:
PF146291=ORC4_C=FE(14.6=100),PF059937=Reovirus_M2=PU(0.1=0.0)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGAGCTGCTGAAAAGAACTGC
R:
TAGCATGTGTAATGACCGCAGG
Band lengths:
167-243
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