HsaINT0145848 @ hg38
Intron Retention
Gene
ENSG00000153253 | SCN3A
Description
sodium voltage-gated channel alpha subunit 3 [Source:HGNC Symbol;Acc:HGNC:10590]
Coordinates
chr2:165092254-165094478:-
Coord C1 exon
chr2:165094374-165094478
Coord A exon
chr2:165092525-165094373
Coord C2 exon
chr2:165092254-165092524
Length
1849 bp
Sequences
Splice sites
5' ss Seq
GCAGTAAGA
5' ss Score
4.95
3' ss Seq
TCTCTTCTCTCACTTTCTAGAAC
3' ss Score
11.98
Exon sequences
Seq C1 exon
TTTGGAGGTCAAGACATCTTTATGACAGAGGAACAGAAAAAATATTACAATGCAATGAAGAAACTTGGATCCAAGAAACCTCAGAAACCCATACCTCGCCCAGCA
Seq A exon
GTAAGAATTACTTGTCTCCTTTAATGTTCCAAAGCCATGCGTCCATATGGTCAAATTGAGCAATGCTCTGGAGCAGAACATATTAGGTGATATCACCAATATTGAGCCCTAATTATAAAGTTCATATTTTGCATCATAATTCACAACTTCTGCACTCATTAGGAGTTACCACATTCCAAAAAAAGGAGGTAATGTTCTTTATAATTTGTGAGTTGAAAACTTCTAGCTCAGGGTTCCTAATAAATACTTCCAAAGCAAGGTTCACTTTCCTGCTACCAACAGCACACCTGGTTCCTCCTCCTCTAGCCTTCCCATCCCACTCTCCAAGGCCTCCCTCTATACTCTCTGCTCCCTCCATTCTTAAGACTAGAAAATATTCCAAACCTGTTTAGAAAGGGAAAAGGTGTCATCAAAATTGTTTGTTTCACCAAATACACCAAAACAGAATAAGGCATATTCAGAATGCATACTCTGTAGAGCCTCATGATGATGGAATGATGTAATAATGACAGATTATGTTCACAGAGCTGGACTCTAACTCAGCTATTTTCTGAGATTGGTAAGGAGTAAGGAAACTGAGGCCCAAAGAACATACGAATCATGCCCCAAGTCACAAATCTTGTAATTGCCAGAACTGGGACTTGACAAGGCCCCATAAATTCTCTAAGTGACTTGACTTTACCATATTTATAAGAGTAGTTGGAGCTGGAATGTGAGGGAGCAGGGTAAGAGGGGAAAGGATTGAACTGACTTTACTAGAGTTCTTTAAAAATTAAAACATGGTCACTTCATGACCTTTGATTTTTGGTAAGCCATGAAGTTTTAAGTTTTTACTCTAAATGATTAATAATATATTTCTTTAATAAAACTGTATTTACTAGCCATATTAATATAAGAATCTTTGAAAGCATGTTGTTCCTGAGATGATTGTTAATAAGACAAAGAAAAAAAGTGTTTAAAGTCATGCATTTTTGTTAAAGCACAGGGCATAGGTAAAGAAGGACAGATGGAAAGAAATACAGATAAATTAACAAGCCCATACATAGATTCACAGAGCTAGAGAGGTAGAATTCAATAGAAATATGACTGATGTATTTCAGGGGAGGGAAATAAGGTATAAACCAAAATTTCTAAAATATTGATAAATGAATTGGTGTATTCTCTATCTAAATATCTGTTGATATTAACCTGCTTTGTAAATCTTTGTTATTAGTAGTCACTATTTTTTATAAAAATTATCATACTTATTCAAATCAAGCAAAGACTACATATATTATCAGCCAATTGTCACAAATTTATGTGTTTGTTTTTGTTTTGTTTTTTAAGAGACAGGGTCTCACTCTGTCTCTCAGGCTGGAGTACAGTGGCAAGACCATAGCTCACTGCAAGTTCAAACACCTGGGGTCAAGTGATTCACCTCAGCCTCCCTCGTAGCTGGGACTGCAAGCCTGTGCCACCATACCAGGCTAATTTTTTTTTAATAGAAATGAGGTCTCACTATGTTGCCCAGGCTGGTCTGGAACTCTTGGCCTCAAGAGAGCCTCCAGTCTCAGCCTCCTAAAGTGCTGGAATTACAGGCATGAGTTGCCACGCCCAGCCTTAATTTATGTCTCATCCAGCTTTGTCTTTCCATAGGACCTATATAAACCAAATATGCTTTGTTTAGCTATATAAATTTTTTTTCCATTTTTTTTAACATGAAGAGAAAAAAAGCACACAAAATTGTTTGGGGTAATATGAGGAGGGTGCACATCCATCCCGTATGTGGAAGGGCTTTATCTACAATTTTACTGCATTATTCTTTATGAAATATATATAGTAACCTTATTTCTCTTCTCTCACTTTCTAG
Seq C2 exon
AACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAGACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTCAACATGGTCACCATGATGGTGGAAACGGATGACCAGGGCAAATACATGACCCTAGTTTTGTCCCGGATCAACCTAGTGTTCATTGTTCTGTTCACTGGAGAATTTGTGCTGAAGCTCGTCTCCCTCAGACACTACTACTTCACTATAGGCTGGAACATCTTTGACTTTGTGGTGGTGATTCTCTCCATTGTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000153253:ENST00000283254:26
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0052026=Ion_trans=PU(20.4=47.3)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGAGGTCAAGACATCTTTATGACA
R:
ACAAAGTCAAAGATGTTCCAGCCT
Band lengths:
351-2200
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development