HsaINT0145804 @ hg38
Intron Retention
Gene
ENSG00000136531 | SCN2A
Description
sodium voltage-gated channel alpha subunit 2 [Source:HGNC Symbol;Acc:HGNC:10588]
Coordinates
chr2:165344555-165354671:+
Coord C1 exon
chr2:165344555-165344911
Coord A exon
chr2:165344912-165354191
Coord C2 exon
chr2:165354192-165354671
Length
9280 bp
Sequences
Splice sites
5' ss Seq
GTGGTATGT
5' ss Score
7.64
3' ss Seq
TTTTTCCTGCTGTGTTTCAGGTT
3' ss Score
12.2
Exon sequences
Seq C1 exon
CTCCGAGTTTTCAAGTTGGCAAAATCTTGGCCAACTCTAAATATGCTAATTAAGATCATTGGCAATTCTGTGGGGGCTCTAGGAAACCTCACCTTGGTATTGGCCATCATCGTCTTCATTTTTGCTGTGGTCGGCATGCAGCTCTTTGGTAAGAGCTACAAAGAATGTGTCTGCAAGATTTCCAATGATTGTGAACTCCCACGCTGGCACATGCATGACTTTTTCCACTCCTTCCTGATCGTGTTCCGCGTGCTGTGTGGAGAGTGGATAGAGACCATGTGGGACTGTATGGAGGTCGCTGGCCAAACCATGTGCCTTACTGTCTTCATGATGGTCATGGTGATTGGAAATCTAGTG
Seq A exon
GTATGTAGCAAAAACATTTTCCTCATTTTCATTAAAAGATAATGTAATCATTAAAAAGTGTGTTCAACTGAAGAATATTTTGTATTTTTTAAATCAAGGCCACTTCCTATTGTCTATTACTCATGACTGTAAGAGCCATGTATAGTTTAGACCATTGTAATCCACACAAACCCTTAAACTACCTTTTGAACCAAAGTTATTCTTTCTTTCATTATCCTTCTTGCTACAAGGAGAGAAACTTTTCTGTTATTTATCTTTCAGTTCTTGTACTAGAGCATGGAAGTGTTACTTAGAACACTCATTTTATTTATAAGTACTAGCAATAACACCTGAAAACGTTTCAGATTTGGTTTTCTACAAATTTAAAAACTAGCAACAATCTCAGTTTATTAAGAGCTCATGGGGTTTTCGGTGCCTAGAAACTATGGTATGAGCAAGTAACATTGTCTCTAAAAACATTAATTGTCATTTCTGCATAAAATTAACCACCCCTAACACCATATATATTTAGGATAGTTAGCTCTTCTTGTTGCATTGATCCCTTTTACCATTATGTAGTGTCTTTCTTTGTCTTTTTTTAATCTTTGTTGGTTTAAAGTCTGTTTTATCAAAGACTAGGATTGCAAACCCTGCTTTTTTTTTTTCTTTCCATTTGCTTGGTAAATATTCCTCCATCCGTTTTTTTTGTGCCTATGTGTGTCTTTGCATGTGAGATGGGTCACAGCACACCGATGGGTCTTGACTCTATCCAATTTGCCAGTCTGTGTCTTTTAATTGGGGCATTTAGCCCATTTACATTTAAGGTTAATATTGTTATGTGTGAATTTGACCCTGTCATTATGATGCTAGCTGGCTATTTTGCTCATTAGCTGCTGCGGTTTTTTCATAATGTTGATGGTCTTAACAATTTGGTATGTTTTTGCAGTGGCTGGTACTGGTTTTTCCTTGCCATATTTAGTGCTTCCTTCAGGAGCTCTTGTAAGTCAGGCCTGGTGGTGGCAAAATCTCTTGGCATTTGCTTGTCTGTAAATGATTTTATTTCTCCTTTGCTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAATAATGTTTAATATTGGCTCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCTGCTGTTAGTCTGGTGGGCTTCCCTTTGTGGGTAACCCGACCTTTCTCTCTGGCTGCCATTAACATTTTTTCCTTCATTTCTACCTTGGTGTATCTGACAATTATGTGTCTTGGGGTTGCTTTTCTCAAGGAGCTTCTTTGTGGTGTTCTCTGTATTTCCTGAATTTGAATGTTGGCCTGTCTTGCTAGGTTGGGGAAGTTCTCCTGGTTATCCTGAAGAGTGTTTTCCAACTTGGTTCCATTCTCCCAGTCACTTTCAGGTACACCAATCAAACTTAGGGTTGGTCTTTTCACATAGTCCCATGTTTCTTGGAGACTTTGTTCGTTCCTTTTCATTCTTTTTTCTCTAATCTTATCTTCATGCTTTACAAATTTAACTCAACATGGATTAAAGACTTAAATGTAAGACCTAAAACCATAAAAACCTTAGAAGAAAACCTAGGCAATACCATTCAGGACATTGGCATGGGCAAAGACTTCATGACTGAAACACCAAAAGCAATGGTAACAAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTATCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTTGCAATCTATCCATCTAATATCCAGAATCTACAAAAAACTTAAACAAATTTACAAGAAAAACACAACCCTATCAAAAAGTGGGTGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGTGGCCAACAAACATATGAATAAAAGCTCATCATCACTGGTCATTAGAGAAATGCAAATCAAAACCACAATGAGATACCACTTCACGCCAGTTAGAATGGCGATCATTAAAAAGTCAGGAAACCACAGATGCTGGAGAGGATGTGGAGAAATAGGAATGCTTTTACATTGTTGGTGGGAGTGTAAACTAGTTCAACCATTGTGGAAAACAGTGTGGCAATTCCTCAAGGATCTAGAACCAGAAATACCATTTGACCCAGGAATCCCATAACTGGGTATATACCCAAAGGGTTATAAATCATTCTGCTATAAAGATGCATGCACACGTATGCTTATTGCAGCACTATTCATAATAGCAAAGATTTGGAACCAACCCAAATGCCCATCAATGATAGACTGGATAAAGAAAATGTGGCACATATACACCATGAAATACTATGCAGCCATAAAAAAGAGTGAGTTCATGTCCTTTGCAGGGACATGGATGAAGCTGGAAACCATTATTCTCGGCAAACTAACACAGGAACAGAAAACCAAACACTATATGTTCTCACTCATAAGTGGGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAACATCACACACTGAGGCCTGTCGAGGGGTGGGGGGCTAGGGGAGGGAGAGCATTAGGAGAAATAACTAATGTAGATTACGGGTTAATGGATGCAGCAAACCACCATGGCAAGTGTATATGTATGTAACAAATCTGCATGTTCTACACATGTATCCCAAAACTTAGAGTATAATAATAATTTAAAAAAATTAACCATACCCAACACTAGTGTCCTGAATCTTGAAGGCATGGAGAAGTTGGGAAGGCATGGGAAGATAAATATAACAAAGTGATATAACATGTACTCAAATAGAATTAAAAATAGGAAGTAACTAATATGTGTCCAAAAATATGAAAACAAAGTGCCATGTGTCAAGTTTACAAAATGTAAACCTTGCTTTACAATAGGAAGGTTGATCAGGGAAGTCTTTGTCAAAGAGTTTGGACCTAAAATATATTTAACTGAGATGTAAGATTTAGCTTGGTAGGAAGAAAGACCATCCCAAACAAGGAAACAAGGTACCCAGTGACTGAGGGATACAGGACAGTAGACTCTGTGAGAAGTATCAGGCTCTTATGCTTTAAATATGAAGTAATTACACCGAGTTGCTTAATTAGAACCCAAACCAATGGAATAGAAAAATGACTACCATAACAAGTAATTTAATGTATATACTCTTGCCAGGCTCAGTGGCTCACGCCTGTAATCGCAGCATTTTGGGAGACTGAAGTGGGCGTTTCACTTGAGGACAGTAGTTCGCGACCAGCCTAGTCAACATGGCAAAACCCCATCTCTACTAGAAATACAAAAATTAGCCAGGCGTGATGATGCACACCTGTAATCCCAGCTACTTGGGAAGCTGAGGCACGAGAATTGCTTGAGCCTGGGAGGCAGAGGTGGCAGTGACCCGAGATTGTGCCATTGCATTCCAGCCTGGGTGAAAGAGCGAGACTCTGTTGCAAAAAAAAAAAAAAAAAAGCATATACTCTTTAGACATGATTTCCTCTCATATAAAGGTAACCTCCAAGTCCCCAAAGATAGAGAAAGGGGAAGGGAAAAAGGCAAAGTATTATTTTATTTTTATTCATTGCCAAATTTCAGCCTCTTCAACATTACTTTTGATAATTCTGATCTATTTTTAAAGTAACAAGAAACATAAACAGTGTACAATCTAGAATTATAAACAGTGGCTTAAAACAATAAACACTGATTACTTCATAGTTTCTGTGGGTCAGGATTTGGGGAATAAGTTAGCTGGGTGGTTCTGGTTTAGGATCAGTCATGAAGTTGCTGTCGAGATGTTAGCTGAGGTTACAGTTATCTTGACTGGGGCTGGAGGATCAGCTTCTAAGAAGGCTCAATCTCATGATTATTGGAAGGAGGTTTCAGTTCCTTTTTGGCAGTTAGTTGAAGGTCTCAGTTTTTCTCTGCAGGACCTTTTCCATAGGACTGTTGAGTGTCCTTATGATATGGCAGCTGGCTTCTTCCAGGGAAGGTGATGTAAGAGAGAAGGCAAGGAGAAAATCCTCTTTATGTTCTACTCTTGAAAGTCACTCTTCACCACTTCTGCCATATTGTATTCATTAGAAGCTAGTCACTAAGAAGAGCTCAAGCTACTATAATCCCCAAGACAACTTTAAAATGTTTGCTTTCAGAAAAGTATAAGATCACATAGAACAGAAAGTGCCATAGGGTTACATAGAACAGAAACAAAGAAAAGATAATATAATTATGTTATAGATTTGATTTCATTTTCTCTGTATGTATATTTGGTATATGTTGGAAGAAGAAAAGAAAACGCAGAGAACAGAATCCTTTATGACAACATGAATGATCAGACAGCAATGGGGAATTAAGAAATATAAGTTTGGGACCAGATTGGGTAGAATTTAATTTATGAAAAGGCTGACTGTGCATAATAAAATGTATTTTCCTTTAGGCAATTCAAAGCTACAGATGATTTTTTATCAGGAAAGTGACAGTGAACCAGTGATATTTTTCAGAAATATACGTAGCAGGAGAATGCAGAATAGATTTAAAGAGGATGAAACTCAGCCCACCACATGTTATCTATTAGTTTACTGAAATTAACATATCTCTCTAATGTATAAATGTGCAGAAAATTGAAGTTGAAAAGAGAATTTCAGGAAATATCAAGTACTTATGGTTGACATCAGTATTAATTTAGATTGTGATGTATGCATAAAAAGATATAGTTTATAAAATAATCATTTCCATCTACTGGGTGTAAATTTAATTTTTGTTCTTTTAAGAGAGAAAAATTAAAGGTTCTCCTTTCTTTTTGACTATCAGTTAAAATAACTTCTTTGTCTTGTGATAACCTGGGTATGTTTCTGGAGTAGCTAAGGTAGTCATATATATCATGTTTACCACTATTAAGGAAATGTGCTTATATAACATTTGCTTAAGACTGAATGAACTTGATATACTCACTCCTTACTACAATTCTTCCTTCCTATTCTCACTGGAAAAATGGGAAAGGTGTCCCAAAGACAAAATGGCATAACTTCCTTTTAACACACATGAACTATCAGATGTGGCTCCACCCAAATAGATGTAGTAGTCACAATGGATGGGACTGCCAGCCTAGTCTACAGACAAGACAGAGCTGGGACCACAAACTACTGTTTCCCAGACCAGGATTTTTATGAGCCATTCTTAGTTTCCAGACACGATGGCAAGAGACCCTTCATTGGTTGAAGATAGGTGCTGCAGAAAAAGAATGTGACTTTCTGAAAACTGATAGTTCTAGAAGCAGAGAAGACAACTTCCTCTCTCCCTAAGTGAAGGTGAGGCAATAGCACACAGGAGGGATGTGAAGGTTTTGGCTTCCTCTCACAAGTTGGGAATCAGGATGGAGAAACAATTAAAATATGTAATATGTTTCAACCTTGAATTCAAAATGGAAATTATGGTAACATTTCCATTCCAAGAGGCTAATTTGAGACACAAGAAAGAGTTGATTTCATTTACTGAGCTAGCACATTTGTGAAACAGGATTCAGGATTTCAGTCCCTGAGTGAGCTTGCTGAACTGTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGCGCCCGCCACTACACCCGGCCAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAACTGTTTTCTTAAATTGTCATGGATCACACCAAACACCTGTGCCAGCTGTTATGCGCATACCCTTCGGTAACAAAGGAAGTCCAGAAAAAGAGAATAACTTGACTCACACAAATATTTCTAGGGAAATAAGGTAAATAAAAAGATAGTGTTGTGGAGGATAAGTTGGATAATAGTAAGTGATAACAGCTAAACTTTCTCAAAGGTTCACTATGTGCCAAGAACTGTGCTGAAAGCCACATGAATTCTGTCACTGAATCCTTTCAACAACCTTGTAAGCTGGGCACTAGAAAAACGATTACATTTATTTTATAGATGAGGAAACTGAGGCTCAGATTGGTTATGCTACTTAGTAGGTAACAGAAAATCGATTCTTACCTAGCACTCGAATTCTAAAATATGTGCTCCTCTATGTCAAGTAATCTATAGAACTAAGATAAACATGCTGATGAAAGTTAGTGTCTAGTGGGTATTAATAAACGCGGTTTCAAAACTGTGTCACCACGGGTAGATTGGCTGCTTTAAAAAAAATAAAAACTTCAATGGATTTATGAGAAAGAAAAGTCATATGTTCCAGGGATATTTATTTATTTTCCTGACAGTGGAATAGCATTGAATTGAGTTATCAATTCATAAAAGATCAGAGAAACAATTCGAAAATTAATAGTAAACCCTATTATACTGACTAAATATGGTAGCAGTTCAAAGAAAGGAAGTATCGGTAAGAGTAAACATGGAATACTGTTTCCTCACTTATTCTGCAAACATCACAATTAGGAGAAAAGACCTTGTAGTTAGACTTTCAAAAAAAAAAAAGCTTCTCTACTTATTAACTGTGGTCTTGGACAAGTCATGTAAGTTGTGCAGAAGCATTTTCATCTGTAAAATAGTAATAATTCCTGCCTTATAGAGTTGTGAGAAATAAATCACATAAACCTTGAAAATGCTTTGCACAATAACTGGTATTTACTAAGAGCTCAACTAAAAAGCTGGTTTTACTTTTATTGTTATTATGATCTGGTATTGATACTGCTCTAGGACTTGGCTCTAAGGCATGTTTCTGACCAAAAGATCTCCCAATCTATCAGTAAAGCTGTGCTTGTTTTTTTTTTTTTTTTAAAGAATCCAATATAATGTGATAGGGATGTGGATGAGAAATTTAACAGGACAGAATGAGAAATGGGAGCAGGCTATATAAATGTCACAGTAAATGACATTTGTAAATAGAGTATTTGTCCAGTACAGAGGCAATATAATTGGCTCCCGCCCTGGGGAAGGATTGATGGATGTGTATCAAGAAAAATTTCCAAATAGACAAATGACAGAACTTTAATATACTTTAGGAAAATAAGTCTAGGAAATAGCACCAAAATAGATAAAATAAAAATTTTACATGCAATTTTTTCTTCCTTTGTCTGTTTTTTTAATCCAAATAATAAGTTCAAAAGCAAATTACAATAAAACATAATTTTATTGGTAAATTCCAGAGGCAAAGGAGCAGGTCTGGTCTTAATGTGATTATCAGGAGTCATAGTATAGAGACTGACAGATTGTCAGTACACTCTCAAAATCAAACGTGGTCTTCATTGGATCTTACATATTTTTACTTTAAAAAAAATCACCATTGGTTAGACTAACTTACAACTAATTAGACAAAGGTGCTGTAAGCCTCATTAGCATGATAGAAGCATGAGAATATAGCAAGAATGTAGAATCCTTTTTATTGAAGTTTTACTTAAAAATTTTCCTAAGATTCTACTTTTGTACTACAGTTTGAGCATCCCTAATCTGAAAATTTGAAATCCAAAATGCTCGGAAGTTCAAAGCTTTTGAGCACCAACCTGATACTACAAGAGGAAAATTCACATCTGGCCTCCTGTAATGAATCGCAGTTAAACCACAGTCAAAATGTTGTTTCCTGAACTAAATTATTAAAAATATTGTATAATATTACCTTCAGGCTATGTGTATGTGTATGAAACTTAAATGAATTTTATGTTTACACATGTGTCTCATTCTCAAGACTTGTCATTATGTACATGCAAATATTTTAAAATCTAAAATCCAAAACACTTCTGGCCCCAAGCATTTCAAATAAGGGATATGCAACTTGTATTTACTTTGTGCATTTGCCCCCCTTTACTGCTATATCTTTCTTTTGTTCTGTATGTTATGTGTGCTTAAATAATCAGGAATTCATTGATATTGTCAATCAAATCCTGAAAAAAAATTATATGACTCAGTCTTGTACCCCTGAGAATGTCTGATTTCTTCGTAAGTTGTCTTTTTTTTTTTTTCCACAATAGTGAGTTTAATGTCATGAATCTTTTCACTCATTCATACTGGTGGAGCCTATTTTTAAAGACCCAATTTGCAGACTGATTACTGTCCTTATTCATGGCAATACTTCAACTCCACAATCTTTAATTCAACAATAACATCATAATTATTGTATAATAACCATTTTATAGTATTTCTCACTATTGTATAATTATAGTAGCCATAATTGTCTTAATAAAAATTGGGACTTTTCATCCAGCAATAAATACGTTTTTGTCTGATTTGTCCAGTTATCTAGGTACAAAAAATGGTACAAAGGCACAAAAATAAAATCATATTTAAATATATTGGGATAATTGTTGATTTTAGGAATAAATTATCAGTGTTTCCGGAAATCCAAATTACATAGTCAAAATAGCATCTGTATTAGGCCATTCTTGCATTGTTACAGATAAATACCTGAGACTGGGTAATTTATAAAGAAAAGAGATTTAATTAGCTCATGGTTCTGCAGTGAGCTTGGTGCTGGCATCTGCTTGGCTTCTGGTGAAGTCTCAAAGAGCTTTCAATCATGGCAGAAGGCAAAGTGGAGCAAGCATTTCACATGATGAAAGCAGGAACAAGCAAGAGAGAATGTGGGCAGGAGGCACTACAAACTTTTAAATAACAACATCTCATGAGAACTCACTAACATGAGGACAGCACCAAGGCATGAGGGATCTGACCCCATCATCCAAACACCTACCACCAGGCCCCACGTCTAGTGCTGGGGATTACAATTCCACATGAGACTTGGGAGGGGGCAAATGTCCAAAATATATCAGCATCCCAAATAAAAGGGTTTTTTTTGTACAGTTGTCTATATTTATCTTTTGGAACTGAGCTTAATAGAAATGTTTCATTTAGCAATGATTTCAGTATTTTCTGCAATGACTAAAAAGCAAATAGTGATAATAGTATTATTTTATATTGACCAAGCATTTTTATTTCATTCACTTTTTTTCAGAATAGTGTATCATGAATTAGCAGAAATGCATGTTAGAATAAAATAAGGTGTCAAGAACAATCTTAGAAAACTAATGATGGAAAGCAATTGAAGCAATAGAATGTTTTGATCACCTGTTTTTCCTGCTGTGTTTCAG
Seq C2 exon
GTTCTGAACCTCTTCTTGGCCTTGCTTTTGAGTTCCTTCAGTTCTGACAATCTTGCTGCCACTGATGATGATAACGAAATGAATAATCTCCAGATTGCTGTGGGAAGGATGCAGAAAGGAATCGATTTTGTTAAAAGAAAAATACGTGAATTTATTCAGAAAGCCTTTGTTAGGAAGCAGAAAGCTTTAGATGAAATTAAACCGCTTGAAGATCTAAATAATAAAAAAGACAGCTGTATTTCCAACCATACCACCATAGAAATAGGCAAAGACCTCAATTATCTCAAAGACGGAAATGGAACTACTAGTGGCATAGGCAGCAGTGTAGAAAAATATGTCGTGGATGAAAGTGATTACATGTCATTTATAAACAACCCTAGCCTCACTGTGACAGTACCAATTGCTGTTGGAGAATCTGACTTTGAAAATTTAAATACTGAAGAATTCAGCAGCGAGTCAGATATGGAGGAAAGCAAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136531:ENST00000283256:16
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=0.121
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(62.1=100)
A:
NA
C2:
PF0052026=Ion_trans=PD(4.2=5.0),PF065128=Na_trans_assoc=PU(61.3=85.0)
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