HsaEX6054134 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4818082-4847840:+
Coord C1 exon
chr3:4818082-4818242
Coord A exon
chr3:4836774-4836935
Coord C2 exon
chr3:4846139-4847840
Length
162 bp
Sequences
Splice sites
3' ss Seq
TTTTTTAATGTGGATTCTAGGAA
3' ss Score
8.07
5' ss Seq
CAGGTAAAG
5' ss Score
9.65
Exon sequences
Seq C1 exon
GCTTGGAAAGAGACAAGTTTGACAACAAGACTGTCACCTTTGAAGAGCACATCAAGGAAGAACACAACATGTGGCACTATCTGTGCTTCATCGTCCTGGTGAAAGTAAAGGACTCCACCGAATATACTGGGCCTGAGAGTTACGTGGCAGAAATGATCAAG
Seq A exon
GAAAGAAACCTTGACTGGTTCCCCAGGATGAGAGCCATGTCATTGGTCAGCAGTGATTCTGAAGGAGAACAGAATGAGCTGAGAAACCTGCAGGAGAAGCTGGAGTCCACCATGAAACTTGTCACGAACCTTTCTGGCCAGCTGTCGGAATTAAAGGATCAG
Seq C2 exon
ATGACAGAACAAAGGAAGCAGAAACAAAGAATTGGTCTTCTAGGACATCCTCCTCACATGAATGTCAACCCACAACAACCAGCATAAGCAAATGAAAGAAAGGAATTGTATTTACCTTTTATAATTATTATTAGTGTGGGTATGGCTAATGAGTTCTGATTCACCCACGAAGGTTACATTTATGCTGAATACATTTGTAAATACTCAGTTTTATACTGTATGTATATGATTGCTACTCTAAAGGTTTGGATATATGTATTGTAATTAGAATTGTTGGCATGATGACATTTCATTTGTGCCAAAAATATTAAAAATGCCTTTTTTGGAAGGACTAACAGAAAGCACCTGATTTGCACTTGAACCAGATTATAGATTTAAAAGTATATGACATGTATTTTGTATTTAAAACTAGAATAGCCAGTATTTATGTTTTTTATAAAACTGTGCAATACGAATTATGCAATCACAATACATTTGTAGCTCCCGAGTGTCCTAAAGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-'123-130,'123-124,126-130
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.370 C2=0.964
Domain overlap (PFAM):
C1:
NO
A:
NO
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:
CTGTGCTTCATCGTCCTGGTG
R:
ACCTTCGTGGGTGAATCAGAAC
Band lengths:
255-417
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains