HsaINT0145913 @ hg38
Intron Retention
Gene
ENSG00000183873 | SCN5A
Description
sodium voltage-gated channel alpha subunit 5 [Source:HGNC Symbol;Acc:HGNC:10593]
Coordinates
chr3:38613975-38620971:-
Coord C1 exon
chr3:38620843-38620971
Coord A exon
chr3:38614067-38620842
Coord C2 exon
chr3:38613975-38614066
Length
6776 bp
Sequences
Splice sites
5' ss Seq
GGCGTAAGT
5' ss Score
9.39
3' ss Seq
ACTGTGGTTTGATTCTGCAGGTA
3' ss Score
9.39
Exon sequences
Seq C1 exon
GTACACCTTCACCGCCATTTACACCTTTGAGTCTCTGGTCAAGATTCTGGCTCGAGGCTTCTGCCTGCACGCGTTCACTTTCCTTCGGGACCCATGGAACTGGCTGGACTTTAGTGTGATTATCATGGC
Seq A exon
GTAAGTATCTCATTTGCTATGCTGTGCTATGCCTTGCAGGCCACACTGGGGTGGGGTGTGCACCACCCCAGGCCCCAGACCACCCCTCTCTTTCTGGCTTCCTCCCTGCAGTCCACATGCAGCTCTGCACACAGGCTGGAGGAAGGTAGGGTGGAGGCCCTGAGCTCATCCTGGTGGGGAGAGACAGCTCAGGCAGGCCTTGGTGGTCAGGCCTACTGGCTCACCTGGGGCTCCACGGCAGCCCTGGTCTCCAGGGACATCGTTAAGATTCTGGTTTAGTATCCTCTGCCCTTTCCACCAAGAGAAACCAATATTTCAACCCCTGGCCCACTGCGAATGGTGACCTGGATTCCAAGATGATTAAGAATGAAATTGCAGCCAAGAGAAGGAGCCTGGAGAAGTGACTAAGCATCCCCAGGAACTCACACCAGTCGCACCAGCACATCAGCTTGCTCCATCCAGAGACTCAATGTTTGGCACATTTTAAAGCACCCGACCACTGACACAATACAGTGGATCCTCACACCAGCCAGAGAAGTAGGCTACCTGGGGATGGCTTAGCCCATTTTATGGGTGAGAAAACTGATGCCAAGGACACACAGGGAGCCTGCCAGAAAGTGAACGTGACCCCAGGCCTGCTGCAGCCCAGGCTGAGGCCCTGCCTCTTTGCCTACAGGAGAAACCCTTGCTGAGGGGTCAGTGTTGAGGCTGCACTCCACCCTGGAAGTATCAGTGAACAGATGCTGGGTTCTGATGGGACATCTGCAGAAGTCGTGATCAGAGGCTCAACCATCAAAGGCATTTTGAAGGCTGAGTGCGGTGGCTCACACCTGTAATTCCAACACTTTGGGAGGCCAAGGTGAGCAGATTGCTTGAGCTCAAGAGTTCAAGACTAGCCTGGGCAACATAGCAAGACCCCATGTTTATGAAAAACACAAGAATTAGCTGGGTGTGGTGGCACACACCTGCAGTCTCAGCTACTTGGGAGGATCACTTGAACCCATGAAGTCAAGGCTGCAGTGAGCTGTGATCACATCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGCCTCAAAAAAAAGAAAAAAGAAAAAGGCCTTTCTGAAGCAGAGGACCTAGTGTGTGCAGGGCTGAGCACTGCATCTCAGCAAGGAGCAGAGCTGGTGAGGCTCATACCCCCTGTCCTTGCAAACCCTCAGTTTCCCGACATGTGAAAGGATAGTGTTGTGTGCTGTGGTATCAGAAGCTCAATTCAGCTCTCACTTTCTAGGATGCTTGGAATCCCTGAATCTACCTATTGAAGGCAGGCTTTAACCCCAGACATGAGCAGCCCTGAGCTCAGCCATGCTGTCAGGGAGAGAGGACAAAGAGGGAAACTATACCCTGGTGAATGGGGTATAGACGGAGAACCTGGTAGTGGGAAAATGCATCAGAATCTCTGTCTCTAGGTACACTATTTGTAAGCCAACTCTAGCCCTCCATTTTACAAGTGGGAAAACTGGCTCTGAGAGACAATACCACTTACTTGCCCCAAACCCAGTATGGATTTAGGCCTGGGTGGAGTTAAGCGAGCAAGGAAAGAGTGGTGGGAGATGAAGTTGCAGAGTAGTGGGATGGAAGACAGATCGTGGTAAAAGCCAGGTGTGATGGGAGTCACCGGGGTGTAAGAACAGGCAGAGCTGTGACCCGCTTTACATTCTGTAGAGACTCCCCTGGCTATGGTGTGGACCACAGACTGGAGAAGGTAGAGACAGACGGAGTAGTTAGGAGGCTATATCTTGGAAGCCAGGAGACAGAAGATAGTGACTGGAACCAAGGACCAAGTGGAGAAGGGGAGCACCTGGTCAGATTCTGGACATACTTTGCAGGTAGGGCTGACAGGAGGCCCCCCAAGGTGGTTTTTGGTTTGAGCAGCTGCTAGGTGGACGGTGTTCCCATTGGTTGAAATGGAAAATTGGAGAGAGCGACACTGGCTGAAGTAGGAAGAAAATCAAAAGTCCAGTTTGGGATGTATGACATTTGAAAGCACCCAGGGTGAGATATTGAGTAGGCAACTGGATATTCCAGTCTAGGGTTCAAGAAAGAGCTCCAAGGTGGAAGTATAAATTTAGAAGCTATGGGGATACAGATGGTATTTAAAGCCAGGAGACCAGATGAGATCACCTAGGCATGAGTGTAGCCTGTAGCCTGAATGTACTGTGGGATGCCCCAACATCTCATCTGGAGGCCAAGAGAGAAGGCTGGAGGGCAGAGGCAAATCAGGAGAGAGCAGTGTCTGGGAAGGAATGTGATTCCGCTGGAAACCCGCCACCGGGAGGTTGGGGAAGGTGACGACTAAGAATGGACTATTGGATTTGACAGAGGGGGAAGGTCACTGGTGCCCTTGACAAGAGAGGTTCCAGTGGAGGAAAAGGACATGCACTTGGTTAAGGAGGGTTCAAGAGAGAGTGGGAAGAGAGGAGGTGTGGCAAGTACAGACATCTATTTTGCGGGGCTTGCTATAAAATGGGACTGAAAATGGTGTAGTGGTCAGTGCGGAATGTGGGTCAATCAAGGGAGGGCTTTTAAAGAAGGGGGGTGTCTTTGCAGGCTGGTGAAAATGATCCAGTAGAGAGAGAATGCTAGATGATGTAGATGAGCAAGGGGATTGCAGGAGCAAAGCCCGTGAGCTGGCCCAAGAGGGTGGGAATGCAGTGCCAAGGGGGAGCATCGACCTGAAGAGTGGGGAAGGCTGAATTTCAGGTGGAGATGGAGGTAGATTGATAAGAGTTGATAATGAAATGAAAGGAATTTCTCTTCTGATTGCTTCTATTTTCTCAGTGAAATAAGAAGCTTGATCATCAGCTGAGAACAGAGTGGGGAGGCACATCTGAGGTTTCAGAGAGAGGGAGAACTTTTCATGTCAGAGCCGAGGAGGTTGCACTGACTTGGGAATGGAGTAGGGTTGCCAGGCTGGGCCGTGGGGTGCCCTGTGGGTGGGAAGCAGTAATCCACAGCAGTGTCCTGAGGCTGGGTGTCACAGGAAGGAAGGTGGCTTCGGGCAGGAGAGGATACACCGTCTGCCTGAGCCTTTCCTAGCTCCCCAACCTGGAGCCTGGGCAAGACAGTATCACCACAGAGGCAGCCCCAGATCCCAGGAAAAGTCATTGCCCTGGGCCAAGCTTTGGCTCAGGCTGTGTCTCTGGGAGATGCTCTGAGCGACCTCAGACCCTTAACAAGTCCTCCTGCCCTGTCTCCTGGGAGAATCCTGGTTTCATTCCCAAACCGCTTCTTTCACTGGGAGTCACAAAGCAGGTGTGCCTTCCTCACCGAAACCTGCTTGCCTTTGCTGTGTGCCAGGGCCGAGGCTGACAAGGCAGAACTCGGCCTCAGAAGCTCAGACACTCTCCACGTTTCCAAGCATCTCACAGAAATGGCACATCCACTTCCCGTAGGGCTGTGTGACCCATTGGCACATCAGCTGTGGGCCCTTGGCTGGCCTGGCCTGGCAGCTTTGATTGACAGGGATTCTGGCTTTGAAATGCATTCTCTTAGAGATGCAATGGTTCAGTAACAAGGGACTCTAGGATGATCAAAGGAGATTTGAGTGAAGGGAAACATTCCATTCAGTGGAATCCTCCATCTGACCTCCATTACACAGATGGAGAAAGTGAGTCTCACAGAGAACCTAGCACTTGCCCAAAGTTATAGACTGAATCAGAAGCAATGCTGAGACTAAAACCAAGTCTCCCAACTCCTAACCATGGGATGGATGGGAGAGGCACCCCGAGTCTGATGTTTCTGCTGGGGTGATCCTCCACCCCACTGATTTAGAGGCTGTGGGAGGGTCTGGGGCAGGGTGCTGGGAAGCCTGCCAGGCTCAGCCAGAGCTCTTCCTGTGGCCCCACTCACAGAAGGGCATTACCTGCTAGTTAGCATAGCCTCCCACCTTCTGGGGTTGTTATGGAAACCAAACCTGGAGGGGAAGGGAGGAAGGGCAGAGAGGAGGGTGGCAATTCCTGCAGTCACTAACGGCGTGGGCTTCACCATCTCAAGATAAGGGAGGGGCAGGAAGAAGGCTTCCCTGCAGTGGGGCTGGTGATGGGATAGGATTCTCACCCACCACCCTTTGCTCTTTCTGCCCCTGTCTGCTGTCCAGCTGTCTGCCTCTGGCCAGCAGCTTAGCCATCACTGAAGGAGCAGACTGGCCTGGAGGAGGGTTTTGCCAGCCTGAGAGGGGCAAAGCTCTGACCCCTCACGTGACCCCACACTTGCCACCTCTGCAACTGGCCCTGTGTCATACCAAGCATTCCTCCAGCCCTGCCACACTCAGAGGACCCAAAAGAGGCCTCAGTGGGGATCTGGGTAGAATAAAAGAGGCAGTAGCACACCAAGTCACCAACATGGCCCCAGACATTCCACACCCTTACCCTGTAAGTCCTCTTTTAAGACTTCCTCTAACTCATGATTGCTCTCCCAGACAGACACACGGCCACCAGCTGCACTCCTATTTCCAGCCACTCAGCTGGCTTTGCAAGCCTGCCAGGAGCACAGATATGGTCCTCCCTTATTCTGTCACTAAGCTGTCCTTGTCACCTTGGGACACCAGCTGCCTAGAAGGCAGACAATGAATGGAGGCCAAGCACTGTCTGTGCTGGGGACACTGTGCTGGGGGCAGGTTCCACCCTGGGACAAGCAAAGACAGGCAGAATATAAGCTAGAGATAGGCAGAGTTTTCAATGGAGACACCAGGGGACAGACTGGGTCTGTAAGGGACAGGAGGGAAGCAAGGACTGTTGAAGCAAGGACGGTTGGTTCCCTCTCTAACCTGCACAGTATTCCACTCACTCCCTGTAACTAGAAGAGACAGCCGCGAAACCAGTATCCTAGGCAAGGGGAGCTGCTGTCCTTAGCCACACCCGGTAGAACAGCAGCCAGAAAAGGGGCCCAGAGCCTCCAGCAGGCCAAAGCCATGTTTCCATGGGATGGCAAGGTCAGCAATATCCCAGGCTCAGCCAGAAAGTCCTGTGGCAGCACCATGTCTGGAGAGAGACCGAGAGAAGAATGTTGGACAGAGCCCTGAGAGTCTGAGCCGTCGTGGAGAATGGAATAGCTCTCAGAAGTTGAGAGGGAACTTGGATCAAATTAACAGGTGTATATGAGCCAGAACAAGCACAGTGACCTCTGCTCCCCAGCAGATGATGGGACTGCATCTGACTGCCACGCTGGAGAAAGATGTACATGCTGAAGTGAATACAGGAGACGAAATGGAAGCCACACCACAGAAAGGGTCTGGTGTCATCAGAGGAAAGCAAGCTCTGGCAGTGTGTCTGCTGACGTCCCATCTGTGTAGGGCTTTGCGAGTAAGGAGAGATCAGCATGGTGCATAGGGCCATGTGAAGATGGAGGGGCTCCTCCAGTGGACATAGAGAAAGCTGGTGTCAGCCCAGTGTCAATTAGAGCCAGACCTGTGGACCCCAGGGCATTAAGCCCCTTGACTCAGCTGGCCAAGTTCTTTCCTGTAGATATTCAAAGCCTGAAGGGGAATTGGGAAGCTGGGAGCAGACTGGAAGGGCCTGGAGGTCCAGACCGCCCAGCAGAGTGAGTCTGGCAACAGTGCCAGCCCACCCTTGCACTCACCCAGAGCCACAGGGCTGACGTCCTCTGTCTGACATCACTCAGACACCTACGTCAGACCCACTTGGTTAAACATCAGACATCCCAAGTCCAATGTCCTTTGTTAAATACCAGACACCTTCGGTTAAATGTCACACACCCTGGATGCAAAGCCTTTGATTAAATGTCACAAGTCACTTGCCACTGTCCTGATGGCCTTGGTCACACACTGTCTGTGGTCCTCGTGGTCATGTGGCCCATATACTGCATGTCCTCATGCTCTGCTTGGTCCCTGCCCCCCAGAGACCACCTTCTTACTCCTGTCCCTGTGGAGGCCACAGATGGGCAACTGCCCAAGTTCCAGGAGGGGGCCCACAGCCACTTGCCCTGCTGATCCTCACTCGGACCCAAGCAGGACAGACCCCAGGAAGGGCATCTTGCTTCTGGAGGCCACTCCTCCGGTGGAGACCCAGGGCCATCCCTGGAAGATACCAAGGGTCTGGGGGTGGGACCGGTGGACTTGGGAAGGCGCTCCACTGCCTTGGAGCCCCTCATCCTGCCCTTTTCTCTTCTTGGGTTGTTCCTTGCCTGTGAGTAGTTGGAAGAACAGATATTCAGGCAACCTCTCTTCCCATCTTCCAGTGCCTCTGTCTTGGGAACTCTGTTTTTTCCAATGAGTATTCAGGCCACCTCCACCTCATGATTTCAAGGACTTCTGAGCCAGGCACAAGCTGATCAACAGATCACAGAAGATGTGAACCAAAACTAGGACCAGAAATGCACTTGCTTCCTGTATCACCTGACCTGAGCCTCCTGGAAAACAGGCTTCTCTCTTCACTCTGATGTGTCCCCAGCCCCAGACTCCACATGTGGTTTCATGTCATGGGTCCCAGTGGTGTGGCGAGAGTGGCAGAGTGGTTGCCTTCTAGCACCAGTTATCCTTAGCACCATCACCAAGAGAGCCACCGGGAAGCTTGCTGTGTGGACATCCTTACGGCACTCAAGCCGAAGTCCTATGTTAGGAGGGTTGAAATCCAGAAGAAAACCTGAGGGAGGCCCTGGGCTATCCACAGCACTGCCCCCACCCCCGTGGGAGGGGGCCAAGGGAGAGGGCTGGTCGGGGAGGGCAGGCGGTGGTTCTGCTTTGTAATTCCCAATAACTGTGGTTTGATTCTGCAG
Seq C2 exon
GTATGTATCAGAAAATATAAAACTAGGCAATTTGTCGGCTCTTCGAACTTTCAGAGTCCTGAGAGCTCTAAAAACTATTTCAGTTATCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183873:ENST00000413689:5
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:
PF0052026=Ion_trans=FE(16.9=100)
A:
NA
C2:
PF0052026=Ion_trans=FE(12.2=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
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
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development