HsaINT1041032 @ hg38
Intron Retention
Gene
ENSG00000183873 | SCN5A
Description
sodium voltage-gated channel alpha subunit 5 [Source:HGNC Symbol;Acc:HGNC:10593]
Coordinates
chr3:38576661-38579495:-
Coord C1 exon
chr3:38579334-38579495
Coord A exon
chr3:38576782-38579333
Coord C2 exon
chr3:38576661-38576781
Length
2552 bp
Sequences
Splice sites
5' ss Seq
GAGGTAATG
5' ss Score
8.73
3' ss Seq
TCCCACACCCCTGTCCATAGACC
3' ss Score
7.79
Exon sequences
Seq C1 exon
CAGGAATCCCAGCCTGTGTCCGGTGGCCCAGAGGCCCCTCCGGATTCCAGGACCTGGAGCCAGGTGTCAGCGACTGCCTCCTCTGAGGCCGAGGCCAGTGCATCTCAGGCCGACTGGCGGCAGCAGTGGAAAGCGGAACCCCAGGCCCCAGGGTGCGGTGAG
Seq A exon
GTAATGCATGCCTTTGTCCCTGAAGCCAGCTGGGCGCCGCTGCTTGGGTCAGAGCCAGGCTGTGAGAGGTGCATGCCTGCATTTGCTGTTGGGAGCCACAGCCACTGTCACAGGCAGCGTGGAAGACCAGTCTGCAGAGGGGAGGGTGGGCATCCCTGTCCTGACAGGGGAGAGACGGTACAGGGCCCAGGGCCAATGGGAAATTCTGGAAATTCTGGTCCCAAACTCTGATGCAGGACTAACCCACTACCTCCATGTGTTCACCCTCTCCACATACTCCATCCCTGTGTTTTGGTCCTGTTTGGCAAATGTTTGTCCTGTGAATCTCCCCATCCAAAGAAGACTTCAGGAGGCTGGGCACGGTGGCTCACGCCTGTAATTTTAATACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATGGTGAACAGGTTACCCGCCTGATTCTGTAAGCATTGGAGTTCGCAACCCCTGAGCAAAAGGCTTGTGGCATTGCTGACTAAGCCGCCCAGCCTCACTCACATCTAGCCCACGGAAGGTGGAGGGCACGTGTTCAGAGTGCTTGGTGGCCACTGTCCTGCAGCTTGACCTCACTCCGTCCAGCACTTGTGCCTTCTCCTCTTTTGTGAGATGGGCCCATGTGAGCTTTGCAAGCATGGTCAGTTTTTGGAGCACAAGGGCCTACTGGAGTCATCTTCCTGACTGTGCAGATCACGGTTCTTCCCCTGATGGTCTGAGCTGTGAAGGCATGTGGGGACAGGAAGACACAGGAGAGAGGCAAAATGCCATGGGAGAGAAGTGGCTCTCTCACACGGATGCTAACCTTTGAATGAATTTTATAAGTCTTCCTTTCTTCAAATCAGTTCATGGGGGAGCCTATATAAGGAGAAACAGGCTGGAGTTTTCCCGGGAAAGGGACTCCCTCGTCTCACCTGCAGTAGGACCTGAGAACGTGTCCTCTCACATGACAGCCCCATGGACTTCAGACGGCTCCAGTGTTTGGAAAGAAAAAATAAGCATGCTGCTCTCCTCTGGCCTGCCCCTTTCATCACCCAACTCCTTTCATCCCCCAGCTGAGCTAGGAGGAGAGGGGAAGGAACCCTCAATGCCATGGGGGACCACAAAAGACTGAGCCTCACCTCTCTGGCCAAGGATCCACCTTCTCTGAGCAGTAGGCTCTGTTTTCCCTCCAGAATCCACCCCTTTCCCATCACAGATCTCAAAAATGGAAAAGAAGCCCCTGAGACATCAGCAGATTGATTCATCAAAGGAAAAGAGAAGAGAGAAGGCAGCTGTAGGAGCATAGCCATGCCCAAGAATTCAGACAAGCCCCTCTCTAAATGGAGCCTGAGCCTGAGATGATGTGAGGCGGGGGCAGCGGAGATGGGGTCTTTGGACCTGACCTGATGCAAACGATGGATTTTCTTCCTTCACTGACACTCCTCCCCTGACGTACCGTTCCCTAGAAGCAGAGGGATTCCTATGCAAATGACTTGTTGAGGGGTGTTCTCAGGAGAAAGTAAGAGAAACAGGATGAAGCAAAGAAGGAAGCTACGGAAAGGCTTTCCAGCTGGAGTCAGCCTCATCCTGTCCCAAGTAGAGCTCTGGGGCATGAATTGCACCACAGCATTGCCCCAACTCAAGGCTAGGGGCTGGCCTTCTGTATTCTTGTATCAGTGGCTGCTGGGCACCGGCCACCCCTTGGGACGGCAGTCCCCCAGCTGAAGATGATTTTCTGGAGGAGGGCCAGCTAAGCAGCTAGCATTCAAGTGGCTGGGAATGGGTGCAGTGGTCTTATGTAGTGGAATTGGGCAGGGTACCCACAGTGGCCCCTGTAACACCCCTTTACACCCACACCCACAAGTGACACACACAGACACTCACAAGGGCACACCTGCATGCACATGCCTCTCTGTAGCCTCCCTATAATCAAGTTATTGAGGTCAGGGCAGCAGACTTGCAAGGACAGGAAGTGGAGGGCTCCATCACCTTCTCAGTCTCCGGGCTCTGTCCAGCACACCAGAACCCACGGGAACTGCGCAAAATGTGTGGGTGGGGTTGCTGGCCTGTTCTCTGCGGTCTGACCTTGCTGCCTGTGTGTTGCCCGGGATCCTGGTTCTGACTCTGTTCTGGATGTGACATGCCTGTTTCCACTGTGTGTGCCACACCACCACGATGTGTCCATGTCCCACTGTGTGTCCAGGTTGCTACCCCATGTCCGTTTTGCTCCCAGCTAGATGCAGTCCCCATCCCCAGTGGCTTCCCAGAGCTCTTTCACAGCCCCCACACCCCAGCCTTAGACTCCAGCAGACCAGAATCACAGACCCGGGAACCCCGAGGTCCAGCCTTGGCCCAGCCCTGACAGGCAAAAGTGGCTCTGTGCAGGTCCCAGGGTGCGTCATGAAGATGCTGCCTCCCTTCAGGGAGCCCTAAGCTCCTGCAGACTCTGGGCTCGAGGCCAAAGGCTGCTACTCAGCCCACACTCACACCCTTTCCCACCCTGTCCCACACCCCTGTCCATAG
Seq C2 exon
ACCCCAGAGGACAGTTGCTCCGAGGGCAGCACAGCAGACATGACCAACACCGCTGAGCTCCTGGAGCAGATCCCTGACCTCGGCCAGGATGTCAAGGACCCAGAGGACTGCTTCACTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183873:ENST00000413689:18
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=NA C2=0.666
Domain overlap (PFAM):
C1:
PF065128=Na_trans_assoc=FE(20.2=100)
A:
NA
C2:
PF065128=Na_trans_assoc=FE(15.2=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains