Special

HsaEX6065638 @ hg19

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 2 [Source:HGNC Symbol;Acc:6181]
Coordinates
chr12:26640001-26648193:-
Coord C1 exon
chr12:26648085-26648193
Coord A exon
chr12:26647086-26647273
Coord C2 exon
chr12:26640001-26640184
Length
188 bp
Sequences
Splice sites
3' ss Seq
TTTATTTTTCCCAATCACAGGAA
3' ss Score
8.34
5' ss Seq
CAGGTACTT
5' ss Score
8.17
Exon sequences
Seq C1 exon
GGTAACACATTAAGAAAGATACTTCTGAATCGATACTTTAAAGGTGATTATAGTATTGGTGTGAATGGACACCTATCAGGAGCCTACTCCAAAACTGCACAGGTGGGAG
Seq A exon
GAAGCTTTTCTGGACAAGATTCAGATAAGATGGGGATATCAATGTCAGACATTCAGTGTCTGCTGGATAAAGAAGGTGCATCAGAACTTGTCATCGATGTTATAGTGAACACCAAAAATGACAGAATTTTTTCAGAAGGCATTTTCCTCGGCATTGCCTTGCTTGAAGGAGGAAATACACAAACACAG
Seq C2 exon
TATTCTTTCTACCAGCAGTTGCATGAACAAAAAAAGTCAGAAAAATTCTTTAAAGTTCTCTATGATCGAATGAAGGCTGCTCAGAAAGAAATAAGATCAACAGTGACAGTTAATACCATAGATTTAGGTAACAAAAAAAGGGACGATGACAATGAATTGATGACATCTGGTCCACGAATGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104-'53-54,'53-52,55-54=AN
Average complexity
A_S
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=0.332
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0138316=CpcD=PD(78.6=53.2)


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:
GGTGATTATAGTATTGGTGTGAATGG
R:
TCGTGGACCAGATGTCATCAA
Band lengths:
244-432
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains