HsaEX6054140 @ hg38
Exon Skipping
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4795065-4806267:+
Coord C1 exon
chr3:4795065-4795187
Coord A exon
chr3:4800425-4800600
Coord C2 exon
chr3:4806103-4806267
Length
176 bp
Sequences
Splice sites
3' ss Seq
ACCCTGTTTTGTCCTTGCAGGAA
3' ss Score
12.99
5' ss Seq
AATGTAAGT
5' ss Score
8.62
Exon sequences
Seq C1 exon
CCCAGCCCGTGTTGTACTGGTGTGCCCGCAACATGTCTTTCTGGAGCAGCATTTCGTTTAACCTGGCCGTCCTGATGAACCTGCTGGTGGCGTTTTTCTACCCGTTTAAGGGAGTCCGAGGAG
Seq A exon
GAACCCTGGAGCCCCACTGGTCGGGACTCCTGTGGACAGCCATGCTCATCTCTCTGGCCATCGTCATTGCCCTCCCCAAGCCCCATGGCATCCGGGCCTTAATTGCCTCCACAATTCTACGACTGATATTTTCAGTCGGGTTACAACCCACGTTGTTTCTTCTGGGCGCTTTCAAT
Seq C2 exon
GTATGCAATAAAATCATCTTTCTAATGAGCTTTGTGGGCAACTGTGGGACATTCACAAGAGGCTACCGAGCCATGGTTCTGGATGTTGAGTTCCTCTATCATTTGTTGTATCTGGTGATCTGTGCCATGGGGCTCTTTGTCCATGAATTCTTCTACAGTCTGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995_MULTIEX2-43/43=41-C2
Average complexity
S
Mappability confidence:
98%=98=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0052026=Ion_trans=PU(10.9=47.5)
C2:
PF0281514=MIR=PD(4.7=9.1),PF0052026=Ion_trans=PU(23.3=96.4)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CCCGCAACATGTCTTTCTGGA
R:
CATGGACAAAGAGCCCCATGG
Band lengths:
244-420
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains