HsaINT0145911 @ hg38
Intron Retention
Gene
ENSG00000183873 | SCN5A
Description
sodium voltage-gated channel alpha subunit 5 [Source:HGNC Symbol;Acc:HGNC:10593]
Coordinates
chr3:38622400-38630429:-
Coord C1 exon
chr3:38630311-38630429
Coord A exon
chr3:38622490-38630310
Coord C2 exon
chr3:38622400-38622489
Length
7821 bp
Sequences
Splice sites
5' ss Seq
CTCATATCC
5' ss Score
-13.36
3' ss Seq
CTTTCCTTGACCCCACGCACGCT
3' ss Score
-1.2
Exon sequences
Seq C1 exon
ACTTTCATCGTACTGAATAAAGGCAAGACCATCTTCCGGTTCAGTGCCACCAACGCCTTGTATGTCCTCAGTCCCTTCCACCCCATCCGGAGAGCGGCTGTGAAGATTCTGGTTCACTC
Seq A exon
ATATCCTTTGCAGTTAATACCTGCTGAGTACCCCCTGGGGGCCCACGCTGGGGATGTGCACGTGCTGCCCCCACCCCACCTCCATTCTAGTTTAGGAGTGAGAGTAGCGCTGATTCCCTGCTGGTCCTAAGACAAATGCATGGTCATGACCTGGGAGCTGGTTGGAAATGAAGAACCTCTGACCCTCCTCCAGACCTGCCAAGTCAGCACCTGCATTTTCATTTGATCCCCAGGGGATTCTTGGGCACATGAAAGTTTGAGAAACCCTCTTCTGATTCTTCAGAACATTCTAGAAGCTAAGCTACTGAGGATCCCAGAAGAAATGACGTCTGTCGGGCTCTGATATTGGCTCCAAATATCCCTCCCCACCACACCCCCTTGGTCCGTCCTCCTCCCCACCCACTTGCAGGGACCTTCAAGCAGGTCACCAGAACTTAGCCAAGGAAAAACCATTTCCCAATAAAGAGGCCTCTAGTTTATTCACATGTGGGCATCTTTTGAGGGAGGCAGCACTTGCTTTTTGATTAGGCGTTGACAAAATGTTTGCAGTTTCAGAGTATCTCAAAGAACTCTGGTTAGCATTAAATTATATAAACCACAGCTGAAAAAAGCTCCAGCCTGCAGAGGAGAGCCATTGGAGTGATGCAGCGTAATGAGGGACTTACCGGGCTTGGGCCTGAGAGGGGCATCATTTGGGCAGCACACTGCATGGGGCGCCAGCACCTAATCACTCTGTTCTCTGGACTTCAGAGAAGGGGCCCCATAGATGGAGCCTTCCGGGAGGGTGGTGCCAGCTGCAGTCAGAGGCATGAGTATTTCACTGCGAGGGCCTGGGCAGGCCTCCCTTTGGCCAGTGGCAACCAGGGTGAGTGCACACACGCAGGTGGCTCTGCTGATCATCTAAGCGACACTGCTGGGCTCAGCAGTGCGACCGATTGTGGGTCTAGCGGGCTGGCCCCACAGAGCTCTCCAAGGTCCCCTTCAGCCCCTTCTCTGAATGGACTTTTTTGAGGCCAAGACAAAGACTTCACTCACTAACCTCTGGCCAAGGCAGGAGGCATCAGGATTACAGATACCTAGTGAGGGACTAAATAACCAGGACTGAGGCTGGCAGGTCAGGAGCTTTTCCTGCCCGGGCAGGGATGGGGGATGCTCCTCCTATGGCTCCACTTTCTTCCCACCTGTGCCCAGTGCCTGATCCTGACCCCAGGGGTTCATTGGAGGGGCATGCATGGCAAGTGGTGTCTGCATGCACATGTGCAGTAAAATGCATGCGTCCAACCACGTGTCTGCTCTCCAGCCTACCCCTGCCTTTCTGGTGGGGTTCATGAGACAACCCCACATGCAAACCATGGCTGTGGCGTGAGCAAAGTGGGAGGCAGACACTGTGGAGAGGGACCATATGTAGCGAGCAGCCTGCCATTCACAGCTGCATCTTATTTTGTGGGGCAAGTGTGGGTCTAGATTTCATCTTGAGCCATCCTGAGTTCCCTGTAGGTGTCAGGCTCTTTGCTAGGCACGCTGGGGTATCGAGCCGAATAAGACCCCGTCTGGGCCCCTTGGGAATTTTATAGTTCCCCTAAAAGTGATAAGGCAGCTTCGCAAATAGTTATGCTTTCTGCCAGAGTGTGGTCACAGCCTGGTAAGAAGAACAGAGCAGCAGGAGGAGGAAAGGCCAGCTTTTCTTGCTCTGAGCCCGTCTCTGGCCTCACTCCGGGGGTGTGGCCTCTCTAACAGCATCCTCCAGCTCTCACCTGGGGCTTCTCCTCCAGGTATCTAACCAACCCAGCACTGTTTGGCAGCCACAGAAGCCCTCAGGGATGTAGCAGAAGCTCCAGAGCTCCTGCAAGGTGCTGAGCTGGGTCGTGGGGCAAATGAAAGGTCAGGGAGGCAGGTGGGCAAGGGAGGCAGTGGGGGGCCCTCGAGTGCCCAGCCTGGCCAGACTGTCCATTGAGCAATGGCTCTGAGGCTGTGAGGTGCTGCTTCCACCTGGAAAAACTGGCCCTGAGGGCTCGGAGCCAGCCTCTATCCCCCAGGACAGCTGCCCCAGGGAATTGTCAAGCATCAGTGAGGACCTGTACTGGGTTCCCAGTGGCTGCCTTGACACTGCTGCTGCCTGGGGATGGGAGCACATTGCTGGACCTCGACAGCGCCACTTAGTGGGCTCAGTGGGCACTGGGGGGAAGAAGAGGCCTAGATTTGTGGGGTTTGGGAGCAGCCCCTCAGCAACACTGTTGAGCCTTGACATTGAGTGTGGTGTGTGGACCAGTAGCATCAGCTTCACCAGGATGTTGTAGGAGTGGCCGAATCTTGGGCCTCACCCCAGAACCTATGTGTAGCAAGGTCCCATGTGCATGCCACCCTAGGGCAGTTGCTTCCAAATGCTAATCTGAGGGCCATCTCAGTCTCACCTGGGAAGTTTGTAAAAATGCAAAATTCTTAGCTCTTTCCAGACCAGAATCACCAGTGTGAGGCCTAGAAATCTGTAAGTGCTCCATGATTTTTTTTTAACTTGAGGTATACTACTTCATATACCATAAAATTTATCTTTTTCTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGCCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTCCGCCACCACGCCGGGCTAATTTTTGTATTTTTAGTAAAGGTGGGGTTTCACCATCTTGGCCATGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAGGAGCCACCGCACCCAGCCAAAATTTACCATTTTTAAGTGCACAGTTCAGTGGTTTTTAGTATATTCATAAGGTTATGCAACCATCACCACTATCTATTTCCAGAACATTTGCACCACCCCAAAAGAAATCCTGTGCCCATTATCAGTCACTATGCATTTCTAAAGAACATCAGGTCTCATGTTTTGAATGGTGAACTTTTGCTGTGCTTAAATTTTTATGCTCATTCAAACATCTAAGTTCCACATGTGCAAAGTTCTGTGCAACGCCCTTTGGGAATGGTAAGTGGGGCAAAGACAAACTTAAAAGTGGGCAGGAATGCAGCCTGGTGAGAAAACCTGCTCAGTCGTGACAATCCAGGAGCTCACAGACCGTAGCAAGTGCGCAGTGATTCCGCTTGGCCTTGTTCTTGGCTCCATGCTTGCAGTGTATCTCTGGGAAGTTACCAAAAAGTAAATATGGGCATGTGGAATGATTTTTTTATATGTATTTTTGTTATAATCCTGCAGAATGTGTTCCTGCTGGGATTAAATAAAAGAAACCAACTGAACTCCATATCCTACCGCAGTCACATTCAGAGAGGCCTCACACACACACTGAGAAGTATTTTGCCTTCTTGGTTGTATAGGATCTGTGCACAAAATCCTCCCACGTTCCTCTACCAGATTCAAATGGGCAATCAAACCACATGTCTGTGGTGTATGTGTGTGTGCCTGTTGATTTAATAGCACAAACACATGAAAATACCCCTCCAGAGTTAATTACCTTTTCTTTGGGTGGTTTTTTTTTTTAAACTCCCTGGGATCTGAAGACTTAGGCAGCCCAAGTGTCAGGCATTCCCCACAACTCAGGCACTCCTTGCTGGCATTTTTATCATGAGGCTAGGAGTGGGTGTTTAGGGACAATGACATGACAAGATTGAAGATGTTCAGCTGAGCATAGACCTGGAGAGCTGGCCTTTGCCTCAGCCCACACAAGGGACCAGCTCAATCATCAGCCTGAAATTACAAGGCAGTGCAAACAGGTGTGCCCTGGCCAGGAGTTCAGTTGACTCGTCTCTATGGTATTGGCTACGTGCTGGGCGCCATGGGGGACCTGGGTATGCTTTAGGCAGAGTCATATGGACTGGGTGCTCAGTCTAGGAAGGAAGAGATCTCATACGTGCAGAAGAAGGATTGACAATTGTGCAAGTGCTGTCCTCAAGGCCATGGGAACCAGGCAAGGATTTTGAGCAGTGAAGTGGCAGAGAGACAAGAGCTTGCTACACGTCACCCTAAGCCATTGCTGTGTCTGGAAAAGGTAAAACCCAGATAGACAGCTCCTGTCATTGCCCACCATGGGACCCAGGTCCTGACTGGTGGGATCCAGAGGGCTGTGTGCCCTGGCTCTTCCCTGAGTCTGGGTGTTCAAGTCTCACTCACCTCTGCCTGGGTCCAGCCAAGGCCTGTAGTACAAGGCAGCCTGTTCACACCACTGCTCCCTGCAATGGGGCCTGTTCCCCCACTCTAAGGAGAGCTGTGAGTGGTCCCCCTAGAGCTGGAAGGGACTTGGCTCCACCGAGAGGAGTCCACCACCCAGCCTTCAGCACATGCTGCTTCACCATGACCAGCTGGGCTGACTGGTTGCTGGAGCAACCCTGGCCAGCCTTGGTGCTTATCTAAATGCCTCTTCCAGGAAGCCTTCCTGCCCAGCCCAGCCAGAGGCATGTTTGGTTTTTTCATAATATCCCATGTCAGAGCGTTTTGGGGACATGGCTCCATTGCCCCCCTGGCTCCCACTCAGGGCCAGACACACATGCTCAAGTGGGATTTCCTCTTACAAATAACAAATAATTCCCTCCCTCCTGTACGGTAGTCTCCCCACATTCGACGGTGCTCTCTACCTCGTTTGGTTTTCACACCGCCCCATGGGTGGCAGAGGCCAGGCGTGGAATAGCTTACCTGCTTGGCATGTGAGAGCCAGAAGCAGCATGACTCATGCAGACCCTCCAGTCTGGAGGCAGGAGAGTGGACCGGGTGGCCTTGAATGTCATCTTGCAGAGGTGGTGCAGCATGGGGCCTCAGAGTGGGGCCCAGATCAGGAGAACCAGGGTGCATGCTGGCTCAGCCATTGATCAGCTTGGTACCAGGAGTACTTTCCCAGGAATGCTGTAACAAATTACCACCAATGCAGTGGCTTAAAGCAAAGCAGATTTATCACCTTACAGCTTTGGAGGTCAGAGGTCCAAAATGGTTCTTGCTGGACTAAACTCAGGGTGTCAGCAGGGCTACACACCTTTTGGAGGCTCTAGGGGAGAATGTGTTTCCGAGGCATTTCCAGCTTCTGGAGGCTGCACTGGATTCTTAGTCTGTGGTTCCCTGTCATCATCAAGCCAGGAATGACCGGTTGAATTTCATGTCACAACACTCTGCCTCTCTTTTGCTTAAAAGGACCCCTGTGATTATACTGAGTCTACCTGGATAATCTAGAATGATCTCCCCACCTCAAGATCCTTAATTTAGGGCCAGGAGCAGTGGCTGATACTTGTAATCTCAGCACTTTTGGTGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCTAAGCAACATGGTAAGACGTTGTGTCTACAAAAAAAAATTAAAAATTAGCTGGCTATGGTAGTGTGCACCTGTAGTCCTAGTTACTCAGGAGGCTGAGGCAGGAGGATCTCTTGAGCCCAAGATTTCAAGACTGCGGTAAGCTGTGGTAATACCATTGCACTCCAGCCCCAGTGACAGAGCTAGACCCTGTCTCGCGGAGGCCAGGGGAGATCCTTAATTTAATCACATCTGCACGGTCTCATTTTGTCATACAAATTAGCATATTCACAGTTTCCGGGGATTCCTCCATGGCCACCTTGGGGGTGGTGGGGGCATTATTCTGCCTACCACAGTGACCTTCAACTTAACCTCTTTGTGCCTCAGTCTTCTCATCACCTAAAATGGAAACAAAGTCCCCATCACATATGGTTGTTGGGAAAACTGAATTCGCTGATGGACACGGAGAGCAAATTCTGGTACCTAGGAAGGGCTCAATGAATATTCACTCTTAGCATCATTGCTTGCATATTTTAGGAGTCACCTGGGCTCCCCAGTAGATGCTTAGCAGCAGATCCGTGGGGATGAATAAAGACTGGTTGGGGGGCTTGTTAACCATCTGCCTAGTGAGGAAAGCCTTGGCACATACCCCGCATGTGGGCAGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTAAGGGAGAAGGGGTACTGATACTGAGATGATTATCTGATCCTGCCTTGAAAGCTGGAGAGGGATATAAGCCTGGCCCTGGACACCCTCACACGGGCAGAGGGCTGGGCAGATACCAAACTGACGGAGGGACCCCAGGGCCTGAAGTGATGCCTTCTGGTCACGGAGAAATCAAGGCTTCCTGGAGCCATGGCATCAGAGCCGAGCAGTCCTGTTGGCTCAGTCCTTGTTTGACTAAGGGAGAGTCCCAAAGCCTAATTTCCTCTCGTCCCAGATGAGAAACTAAATAATTATAAACTGGAGGCTGGTTTGAGATGCTGATTTCCTGATTGCCTGACTCCCTAGAAGAGGAGCAGCACGGAGGGCATCTACCTGGTTAGATTCCCGAGAGGCATCCCCACTGTCCCCAGCAGGGGCAGTCGGCACCGCAGCCAGGCCTGGTCTGTGCTCGGACTGCACTGGCCTTCCCATCAGGTGAGGTGGAGCTATGCTAGGGAGGCAAGAGGCAGCCCCTGGAGCTCAATTACCGCAGCTCCTGGGCGGCCTGTGGGAATCACCAGTTTGGCAGCTGTGCATACGGGGCTGAGGCCGGGCATGGTGTTGAGCGCTTGGGGGCAGCCACAGGGAGTGGAAGGCCTAGCCACTCCTCTGGGGCTGGGTAGGGATTTGTGAGAGAAGCACAGTGTCCCTGCTCTAGGCCAGGCCTCCAGGGGTGCCCCAGCCTACAGGAGGCCCAGAGTCTGCCCCCTTGTTCCTCTGCAGGCCTTGCAGAGGTGGAGGAGGGCGATTGGAGCTTTGTCTAGCCTGAAGCAGCAGCTAGGAATTGTAGCCAGAGTCAGGCTCAGAGAAGTCCTGGGCAGTTCAGTTCAAGGCCAAGAGCCCACAAGTAGACCTGAAGCACAGCTCTGGTACTTGAAGCGCTGCCTTGTGATGGGAGACAGATGGACATTGCCGTTCAGTGAGCCACCAGGGCTAAAAGAGGGGTGCCCGAAGCCCGCAGGGCACAGAGGCAGCACCGTGTTACCAGAAAGGCAGGACAGGCTGCTAGGGAGTTGGGTGGGGTCCTACTGACGGGCTCCTGCAGGGTGAGAAGGAGATTCCCAGGTGGAGCAGAGGGCTAGCTTGAAGACTAGGTGCACAGGCAGGAAGCAGCCAGAGGAGTGGTCCCCTGCCTCCCCAGGGGTAGCAGGCCCTGGCCAGGTGTGCAGTTGTTTGGCAGCAGGGCATTCTGCAGAGAACTTCTAGACAACGCCTGGCCTGGGCTGCTCCCCTAGAAGTGGAGGAGGGAACTCAGAGCCCTGCCACTCTGGCCTTGCCCTCCCCCTGAGGAGCAATTTATAAATGCCCATTTCTCTCCTATGTGACTGAGGACAGGGCCCCTCGCCTGACTGCGGTTAAAAGGCTTTGAGGTCTGGGGCCCACCTCTCCTGCCTTCCCTCCACACGAGACCCTACCAGCAGTGTGGTTTCAAGTCTCTGGTGCCTATTAGGTGTCATGGAGCAGGCCAGGGGGCCAGCTGCAAGTGCCGGGGAAGGGAAAGAGACCAGCCTGGGTGGAGGGGGATTGGCATGGACTGGTCACAGCCCCAGTGTGTCTCCTTGGAGACCCTGTTTATTGTCTGGTAGCACTGGCCTGGCAGTGATGACCCCCAGGGGCAGGACCCCCCCAGCGGTGGTGGCGTGGCCGGCCCATGCTGCTCAGCTTTCCTTGACCCCACGCAC
Seq C2 exon
GCTCTTCAACATGCTCATCATGTGCACCATCCTCACCAACTGCGTGTTCATGGCCCAGCACGACCCTCCACCCTGGACCAAGTATGTCGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183873:ENST00000413689:3
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:
NO
C2:
PF0052026=Ion_trans=PU(0.8=6.5)
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
- Autistic and control brains
- Pre-implantation embryo development