Special

HsaEX6054141 @ hg38

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4782619-4799387:+
Coord C1 exon
chr3:4782619-4782741
Coord A exon
chr3:4783816-4783920
Coord C2 exon
chr3:4799355-4799387
Length
105 bp
Sequences
Splice sites
3' ss Seq
TCTCTGTCCCTGTATTCTAGTTG
3' ss Score
9.69
5' ss Seq
GAGGTAAAA
5' ss Score
7.3
Exon sequences
Seq C1 exon
GTGGAAGTGATCAAGAAAGCCTACATGCAAGGTGAAGTGGAATTTGAGGATGGAGAAAACGGTGAGGATGGGGCGGCGTCCCCCAGGAACGTGGGGCACAACATCTACATATTAGCCCATCAG
Seq A exon
TTGGCTCGGCATAACAAAGAACTTCAGAGCATGCTGAAACCTGGTGGCCAAGTGGACGGAGATGAAGCCCTGGAGTTTTATGCCAAGCACACGGCGCAGATAGAG
Seq C2 exon
CTTTGCCTTTTGAAGGATTTCAAAAGGGAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995_MULTIEX2-39/43=38-42
Average complexity
C3
Mappability confidence:
98%=98=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.320 A=0.143 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000354582fB17822


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:
GTGGAAGTGATCAAGAAAGCCT
R:
CTCTTCCCTTTTGAAATCCTTCAA
Band lengths:
156-261
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains