HsaEX6054135 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4814423-4818242:+
Coord C1 exon
chr3:4814423-4814562
Coord A exon
chr3:4815053-4815218
Coord C2 exon
chr3:4818082-4818242
Length
166 bp
Sequences
Splice sites
3' ss Seq
CAGACACCTCTCTTTTCCAGGAA
3' ss Score
8.8
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
Exon sequences
Seq C1 exon
AGCTGGTCCCTGCAGAAGAGACGGAACAGGATAAAGAGCACACATGTGAGACGCTGCTGATGTGCATTGTCACTGTGCTGAGTCACGGGCTGCGGAGCGGGGGTGGAGTAGGAGATGTACTCAGGAAGCCGTCCAAAGAG
Seq A exon
GAACCCCTGTTTGCTGCTAGAGTTATTTATGACCTCTTGTTCTTCTTCATGGTCATCATCATTGTTCTTAACCTGATTTTTGGGGTTATCATTGACACTTTTGCTGACCTGAGGAGTGAGAAGCAGAAGAAGGAAGAGATCTTGAAGACCACGTGCTTTATCTGTG
Seq C2 exon
GCTTGGAAAGAGACAAGTTTGACAACAAGACTGTCACCTTTGAAGAGCACATCAAGGAAGAACACAACATGTGGCACTATCTGTGCTTCATCGTCCTGGTGAAAGTAAAGGACTCCACCGAATATACTGGGCCTGAGAGTTACGTGGCAGAAATGATCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-'116-117,'116-116,120-117=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=0.191 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(17.9=100)
A:
PF0052026=Ion_trans=PD(11.3=51.8)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGTGAGACGCTGCTGATGTG
R:
ACGTAACTCTCAGGCCCAGTA
Band lengths:
242-408
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains