Special

HsaEX6046676 @ hg38

Exon Skipping

Gene
Description
inositol 1,4,5-trisphosphate receptor type 3 [Source:HGNC Symbol;Acc:HGNC:6182]
Coordinates
chr6:33690034-33691719:+
Coord C1 exon
chr6:33690034-33690198
Coord A exon
chr6:33690917-33691109
Coord C2 exon
chr6:33691615-33691719
Length
193 bp
Sequences
Splice sites
3' ss Seq
ATCTCAACCCCATCCTGCAGCTC
3' ss Score
7.14
5' ss Seq
CAGGTCTTG
5' ss Score
1.23
Exon sequences
Seq C1 exon
CTGACCAACAAGATCGTGTTTGTGGTGAGCTTCGTGGGCAACCGTGGCACCTTCATCCGGGGCTATAAGGCCATGGTCATGGACATGGAATTCCTCTACCACGTGGGCTACATCCTGACCAGTGTCCTGGGCCTCTTTGCTCATGAGCTGTTCTACAGCATCCTG
Seq A exon
CTCTTTGACCTCATCTACCGCGAGGAGACGCTGTTCAACGTCATCAAGAGTGTGACCCGCAATGGCCGCTCCATCCTGCTGACAGCCCTGCTGGCCCTCATCCTGGTCTACCTCTTCTCCATCGTCGGCTTCCTCTTCCTCAAGGATGACTTCATTCTCGAGGTCGACCGGCTGCCCAACAACCACTCCACAG
Seq C2 exon
CCAGCCCCCTGGGGATGCCACATGGAGCTGCTGCATTTGTGGACACCTGCAGTGGGGACAAGATGGACTGTGTCTCAGGGCTCTCGGTGCCTGAGGTCCTGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000096433-'109-119,'109-117,111-119
Average complexity
S
Mappability confidence:
100%=100=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:
PF0052026=Ion_trans=FE(23.6=100)
A:
PF0052026=Ion_trans=FE(27.9=100)
C2:
PF0052026=Ion_trans=FE(15.3=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAAGATCGTGTTTGTGGTGAGC
R:
GAGAGCCCTGAGACACAGTCC
Band lengths:
242-435
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains