Special

HsaEX6054143 @ hg19

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 1 [Source:HGNC Symbol;Acc:6180]
Coordinates
chr3:4808214-4817126:+
Coord C1 exon
chr3:4808214-4808394
Coord A exon
chr3:4810195-4810448
Coord C2 exon
chr3:4816926-4817126
Length
254 bp
Sequences
Splice sites
3' ss Seq
GCCTTATGCTTGCTTTCTAGCTA
3' ss Score
8.31
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
CACTCCTTTTTCTGTCGCTTGACAGAAGATAAGAAGTCAGAGAAATTCTTTAAGGTGTTTTATGACCGGATGAAGGTGGCCCAGCAAGAAATCAAAGCAACAGTGACAGTGAACACCAGTGACTTGGGAAATAAAAAGAAAGACGATGAGGTAGACAGGGATGCCCCATCACGGAAAAAAG
Seq A exon
CTAAAGAGCCCACAACACAGATAACAGAAGAGGTCCGGGATCAGCTCCTGGAGGCCTCCGCTGCCACCAGGAAAGCCTTCACCACTTTCAGGAGGGAGGCTGATCCCGACGACCACTACCAGCCTGGAGAGGGCACCCAGGCCACTGCCGACAAGGCCAAGGACGACCTGGAGATGAGCGCGGTCATCACCATCATGCAGCCCATCCTCCGCTTCCTTCAGCTCCTGTGTGAAAACCACAACCGAGACCTGCAG
Seq C2 exon
AACTTCCTCCGTTGCCAAAATAACAAGACCAACTACAATTTGGTATGTGAGACCCTGCAGTTTCTGGACTGTATTTGTGGAAGCACAACTGGAGGCCTTGGTCTTCTGGGCTTGTATATAAATGAAAAGAATGTAGCGCTTATCAACCAAACCCTGGAAAGTCTGACCGAATACTGTCAAGGACCTTGCCATGAGAACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-'57-59,'57-57,58-59=AN
Average complexity
A_S
Mappability confidence:
89%=100=80%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.393 A=0.435 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF084546=RIH_assoc=PU(24.2=34.1)
C2:
PF084546=RIH_assoc=FE(55.0=100)


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:
GGCCCAGCAAGAAATCAAAGC
R:
CTGGTTCTCATGGCAAGGTCC
Band lengths:
305-559
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains