Special

HsaINT0145994 @ hg38

Intron Retention

Gene
Description
sodium voltage-gated channel alpha subunit 9 [Source:HGNC Symbol;Acc:HGNC:10597]
Coordinates
chr2:166288437-166293372:-
Coord C1 exon
chr2:166293231-166293372
Coord A exon
chr2:166288644-166293230
Coord C2 exon
chr2:166288437-166288643
Length
4587 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
3' ss Seq
CAATTTCCATTTTTCCCTAGACG
3' ss Score
8.22
Exon sequences
Seq C1 exon
TCAGTGTCCAGAGGGGTACACCTGTGTGAAAATTGGCAGAAACCCTGATTATGGCTACACGAGCTTTGACACTTTCAGCTGGGCCTTCTTAGCCTTGTTTAGGCTAATGACCCAAGATTACTGGGAAAACCTTTACCAACAG
Seq A exon
GTGAGTACCAAGAGAAACATGCATTGTATTTTTGAATGGCATATGTACCTGGTGTATGTTAAGAGCCTGTATTAGGAGGTTTTTTATTTATTTGAGAATGGAGGAAACTCTATTATCTTATTACCAAAATTATAAGTGTTTTACTCCCATCACTAATAATATGGGTAGTTCTCGAATCATAAATAATTTTCTTATCTTTTCTGGGCATATTTAATCTCTAGATCTCTCGCCTTCCTGAGTATATCATCCCATGGGGTCCTAGTTAAGTACCAGGACATACTGTAATGTTTTCTCAAGCTGCTCCTGCACATGGACTGTTTTCCATGCGTGCTTGGGATGGCCTGAAGAGAAGAGGCTCTCTGATGTTCACCTGCTCACCATGTTTTATTTTTGAACTCCTATTTAAAGTTAAAGATGCAATTCATTTCTCTAAGTTTTTCTCTCCCAAATCAATTGCTCCCAACTGTAGACTTCCATGATTTTTTGTATTTTCTTCCATTTATATCATTGATCTCTTGTATTGCAAGTGGTAATTCATGTGGCTATTTCCTCTAACTTGAATGTGAACCTCTTGGGGCTGTGGTCTCCATTTACTTGTATAGTCTCAGCAGCCAAGCCAAAAGGAAGGAGACCAAAATGATTATTCTATAGTACACATAACAATGATTCACTTTTCTCAGAATAGCTGCAGATCTGTTTTTTTTTCTTTTTTGGCCTATTTTATATTTACTTTATTTCCGAGAATATTATAAATGAATTCGGAAATTATGTAAGATGCACTTTACAGCAAAAATGGGAATGCAAATATTTTTTAAATATGCAAGAAGTGGTCACCTTTACTCAAAATTAAAGAAACACAAATAAAAAAATTAAAATAATTTTTCATCAGAGGTAAGACTTATTTTTCATTTAATATCAGTTGATACTATCCTAAATTCACTTTAAAATGCTTTGTATGATAAAAGTATATTACATTATACAATTATTAATAGAAATGTTAATTATCTTATAAATTTGTTTAAGTTACTTGTAGATTCTTAATATTAGACCTTTGTCAGATGGGTAGATTGCCAAATTTTTCTCCCATTCTATAGTTTGCCTGTTCACTCTGATGTTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAGTTATATCCCATTTGTCAATTTTGGCTTTGGTTGCAATTGCTTTTGGTATTTTTGTCATGAAGTCTTTGCCCATGCCTATTTCCTGAATGGTGTTGCCTAGGTTTTCTTCTAGGGTTTTCATGGTTTGGGGTTTTACATTAAGTCTTTAATCCATCTTGAGTTAATTTTTGTATAAGGTGTAAGGAAGGAGCCCAGTTTCAGTTTTCTGCATATGGCTAGCCAGCTTCCCCAGCACCATTTATTATATAGGGAATCCTTTCCACATTGCTTGTTTTTGTCAGGTTTGTCGAAGATCAGATGCTTGTAGAAGTGTGGTGTTATTTCTGAGGTCTCTATTCTATTCCATTGGCCTATATGTCTGTTTGGGTACCACTACCATGCTGTTTTGGTTACTGTAACCTCATAGTATAGTTTGAAGTCAGGTAGGCTGATGCCTCCAGCTTTGTTCTTTTTGCTTAGAATTGTCTTTGCTATATGTGCTCTTTCCTGGTTTCATATGAAATTTAAAGTAGTTTTCTAATTCTGTGAAGATGTCAATGGTAATTTGATGGGACTAGCATTGAATCTATAAATTACTTTCGGCAGTATGGCCATTTACATGACATTGATTCTTCCTATCCATGAGTATGGAATGTTTTTCCATTTGTTTGTGTCCTCTCTTGTTTCCTTGAGTAGTGGCTTGTAGTTCTTGAAGAGGTCTTTCATATCCTTTGTAAGCTGTATTCCTAGGTATTTTATTCTCTTTATAGCAATTGCAAATGGGAGTTTATTCATGATTTGGCTCTCTGCTTGTCTATTGTTGGTGTATAGGAATGCCTGTGATTTTTGCACATTGATTTTGTATCCTGATACCTTGCTGAAGTTGCTTATCAGTTTAAAGAGTTTTGGGGCTGAGATGATCGGGTTTTCTAAATATAGAATCATGTCATTTGCAGAGACAATTTGACTTCCGGTCTTCCTATTTGAATACCCTTTATTTCTTTCTCTTGTCTGATTGCCCTGGCCAGAAATTCCAACACTATATTGAATAGCAGTGGTGAGAGAGGGCATCCTTGTCTTGTGCCAGTTTTTAAAGGGAATGCTTCCAGCTTTTTCCCATTCAGTATGATATTGGCTATGGAGTTTTCATAAATAGCTCTTATTATTTTGAGATATGTTCCATCAATACCTAGTTTATTGATAGTTTTTAACATGAATGGATGTTGCATTTTATTGAAGACCTTCTCTGCATCTATTGAGATAATCATGTGGTTTTTGTCATTGGTTCTGTTTATGTGATGGATTACATTTATTGATTTGCATATATTGAACCAGCCTTGCATCCCATCAAAAAGTGGGCAAAGGATATGAACAGAGACTTCTCAAAAGAAGACATTTATGCGGCCAAAAAACATGAAAAAAAGCTCAACATCAGTGATCATTAAGAAACGCAAATCAAAACCACAATGAGATACCATCTCAAGTCAGTCAGAATGGTGATTATTAAAAAGTTGAGAAACAATAGATTCTGGTGAGGCTATGAAGAAATAGTAGCACTTTTACACTGTTGGTGGGAGTGTAAATTAGTTCAACAATTTTGAAGACAGTGAGGCAATTCCTTAAGGACCTAGAACCAGAAATACCATTTGACCTAGCAATCCCATTACTGGGTATATACCGAAACGAATATAAATCATTCTACTACAAAGACACATGCACACATATGTTTATTGCAGTACTATTTACAATAGCAAAGAGATGGAATCAACTCAAATGCCCATCAATGTTAAATTGTATAAAGAAAATGTGGTACATATACACCATGGAATACTATGCAGCCATTAAAAAAGAATGAGATCATGTCCTTTACAGGGACATGGATGAAGCTGGAAGCCATCATCCTCAGCAAACTAATACAGGAAGAGAAAACCAAACACTGCATGTTCTCACTCATAAGTGGGAGTTGAACAATTTGAACACATGGACACAGGGAGGGGAACAACACACACCGGGGCCTGTTGGGGGGTGGGAGGCAAGGGGAGGGAGAACGTTAGGACAACTACCTAATGCATGCAGGTCTTAAAACCTAGATAATGGGTTGATAGGTGGAGCAAACCACCATAGCACATGTATACCTGTGTAACCAACCTGCATGTTCTTCACATGTATCCCATAACTTAAACATATGAAAAAAAGCTCATCATCACTGGCCATTAGAGAAATGCAATTCAAAACCACAATGAGATACCATCTCATGCCAGTTAGAATGGTGATAATTAAAAAGTCAGAAAATAACAGATGCTGGAGAAAATGTGGAGAAATAGGAATGCTTTTAAACTGTTGGTAGGAGTGTAAATTAGTTCAACCAGTGTGGAAGACAGTGACCCAGCAATCCCATTACTGGGTATATACCCAAAAGATTACATATCATTCTATGGTAAAGACACATGCACACATATGTTTATTGTGGCACTATTCACAATAGCAAAGACTGGGAACCAACCCAAATGCCCATCAATGATAGACTGGATAAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAAGAATAAGTTCATGTCCTTTGCAGGGACATGGATGAAGCTAGAAACCATCATTCTCAGCAAACTAAAACAGGAACAGAAAACCAAACAACGCATGTTCTCACTCATGAGTGAGAGGTGGGCAATGAGAACACATGGGCAATGAGAAGATCATCACACACTGGGGCCTGTCGGTGGTGGGGGGCAAAGGGAGGAATAGCATTAGGAGACATACCTAATGTAGGTAACAGGTTGATGGGTGCAGCAAACCACCATGGCACGTGTCTACCCATGTAACAAACCTGCACGTTATGCCAAAAAAAAGAAAAAAAGAAAAAAAAATCTCTGTACCTTCAGTTTAATTTTCCTCTAATCCTAAAACTATTTTGAAAAAAAATTCTATTTTAAAAAGCAAAGAAAGCGAAAAAAAAAGTTAATTGAAAATACCTATGAGATGAATAAAGTAATTAAATAAGACCATCTGCCTAGTGTTAACATTCAATGATATTATTAATATTTGATGATAAAGAAAGAAAAGATAGAATTTTAACAGTAAAAGGGACTATGGATATCACCTGTTCCTAAAATTTGAAAGTGAGCAAAGGATTTAATTTTATGAGTAATTTTCAGACTGTAGGAAAAAATGCATGATTTTTATACTACTACACTTAATAATCAAGAATCTTACATGACTTTAGTACAAGCATATTACATTGCTATATTCTTCGTACTGAAAATGTGTTTAATATTTGTTTTCCATGAAGATATAACTTTTCTCTTTATATTTTTGATAACATGAGATTATACCAAACTGTCAGATTTGCTCATGCCTGTCAAATTGAAATAATTTACTAAAAAAACTTTTTATTGTTCAAATGACAATTTCCATTTTTCCCTAG
Seq C2 exon
ACGCTGCGTGCTGCTGGCAAAACCTACATGATCTTCTTTGTCGTAGTGATTTTCCTGGGCTCCTTTTATCTAATAAACTTGATCCTGGCTGTGGTTGCCATGGCATATGAAGAACAGAACCAGGCAAACATTGAAGAAGCTAAACAGAAAGAATTAGAATTTCAACAGATGTTAGACCGTCTTAAAAAAGAGCAAGAAGAAGCTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169432:ENST00000409672:9
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=0.014
Domain overlap (PFAM):

C1:
PF0052026=Ion_trans=FE(19.0=100),PF0253517=Zip=PU(11.2=41.7)
A:
NA
C2:
PF0052026=Ion_trans=PD(12.5=44.9),PF0253517=Zip=FE(38.0=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Zebrafish
(danRer10)
LOW PSI
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