Special

HsaINT0171007 @ hg19

Intron Retention

Gene
Description
torsin family 1, member A (torsin A) [Source:HGNC Symbol;Acc:3098]
Coordinates
chr9:132575221-132580926:-
Coord C1 exon
chr9:132580799-132580926
Coord A exon
chr9:132576502-132580798
Coord C2 exon
chr9:132575221-132576501
Length
4297 bp
Sequences
Splice sites
5' ss Seq
ACAGTGAGT
5' ss Score
8.34
3' ss Seq
ACCTTGTTTCTTCTTCCCAGGTG
3' ss Score
11.65
Exon sequences
Seq C1 exon
CAATGCTGGAGCAGAAAGGATCACAGATGTGGCTTTGGATTTCTGGAGGAGTGGAAAGCAGAGGGAAGACATCAAGCTCAAAGACATTGAACACGCGTTGTCTGTGTCGGTTTTCAATAACAAGAACA
Seq A exon
GTGAGTAGGGCCATCCACCGCCAGTCCCATCTGGTTCCTAATCCTGCACCCTAAGTGTTAAAAGCATCAGGGTCACTGTCAGCATCACCTGGGAGCTGGGTAGAAAGAAATGCAGATTCTCAGTCCCCTTCCGAGTCATGAGGGGAATCTTTGCTGATGAACTCCAGGTAACTTTTATGAACACTAATGTTTGACAAGTGCTGTTTTATTTTTATTTTTCAGATAGTTTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCGTAACCTTGCCTCACTGCAACCTCTGCCTCCCGGGCTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCATGCCCAGCTAATATTTGTATTTTTAGTAGAGATGGGGTTTTGTCATGTTGGCCAGGCTGGTCTTGAACTCTTACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCAGCTTATTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGGAGTCTTGACTTCCTAGGCTCAAGTGATCCTCCAGCCTCAGCTTCCCATGTAGGTGGAACCACAGGCTTGCGCCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTAGAGACTGGGTCTTCCTATGTTTCCCAGGCTGGTCTTGACTTCCTGGACTTAAGTCATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGAATTATAGGCATGAGCTACATACCTGGCCTGCTGTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGACTACAGGCACCTGCCACCACACTCGGCAAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATGTTAGCCAGGATGGTCTTATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCAGTTCCCCCATTTTCTTCAGCTACATGATTTTCTTTGTAGAAGAAAGAGCCAGTGGTTGAGCAAGGAAGGATGCCGTGGGCAGCTCAGGGGGAGAGATGACCTGTTAGTTCCTCCCTTTCTCTGCATTGCCCAAGAGCAACAGCCAAATAGCGGTTCGGCCCTTATTTTGTACTGGGCACCGTGTGAAACAGCCTGCCTGCGGATTTCACTCAGTCTTCACCATACCTCGCAGGGTAGAGACTGAGACTCAGAGATGTGGCAGCTTGCCCAGGGCCATGCAGCCTGTTCGGTATCTCTGATTCTAAAACCTGAGCTTTTAAGTTTTAGCTCACTACTTCTCCAAATGTCATGAGACCTTTGACCTTGAACCTGGGGAGGTGGAAAGCCAGCCTGATGGAGGCTGACTCACTGGCTAAGACCTGTGAGTTGTGCAGGGCTGGCTGTTCAAGTCTTTGCGCTTCAGGTTCTGGAGATGACAAAACAGAAGGGCTCATTTGAAACAGACTTGCCAAGAAATTAATCCTACAGTTAGTGAACAGCATGGGGTACAGTATGTCAGTGTGTGCAAGTGGAATACTACTGAGGAAAGACAAGTATTTTGTAACATGTTGGATAGTTTCTTGCCTTGCCAAAAAACATGAGCACATGCAGTGGAAACTTTAGCCTAATGCTGAGGCAGATGAGCCCCGTGGCCTAGAATCCACGCTGTGGAGGTTACACGGTGCTTAGGAGTGCCAACCTGGGAGTCGGGCAGCCCTGGCCCACAGACTGACTGTGACCTCAGGCAGATGGCTGAACATTGATTCAGCACATGTATATGGAGCATCTGGTAAGTGCCAGGCATCATACCTAGGACGGGGGACACAGCAGTGAACAAACACAGAAATTCTTGCCCTTATCAATCCTACATCCTAGTGATAATAAAGAAAGAAAATGTATCAGATGATGGGGGATAGATATGTTGATGTGTGTGATGTGTTTGTGTGTATACATGCAGTACATATGCACACATCGCACATGTACACATGTGGACATATAGATATCTTTCCCCCCGGGGCCAGTAGGGGAAAAAAATCAAGAAAGGCTTTGGGGTTCAGGGTAAGGATGGGCTCTGCTTTAATAGAGTGGACAGGGAAGGCTCCCTGTGAGGGTGGCATTTGGGCTGACCCGGGGGAGTGAGCCATGTGGATGTCTGAGGGAAAAGCATTCCCCAGTGCGGACAGCACGTCCAGGGGCCCGAGGGGGGCCTGTGCTTGGGGTCCCTGTGACTGGTTGAGGATAAACAGAGGAGGGAAACGGGAGGTGATAGAAGAGGCGAGATTTGGGGTGGAGGTGCAGACCGTGGGAAGCCTGGCGGGCCATGGTGAACCTTGAGTCTTATTCCAAGTGGAAGAGAGAGGCCTGGAGGGTCCTGGGCAGGTGGTGCTGTGATCTGACGGGGCCTTCACAGGACCTTGCTGGCAACTGGATGGAGGACAGACCCACAGCCACAGGGGCAGGGAGCCCAGCGTGGAAGCGGTGGGGGTGGAGGGACACGGTTGGCTTCTGGGTGTGTTTTGAAGGTAGAACCTGTAAGACTTCCTGCAGAATTGTATATGGGAATGAGAGAAGAATCAAGGACCTGGCTTGAGCGATGGGAAGGGTGGCACTGCCATTGAAGGGAAGGGACAGCAGGAAGGACGGGCGAGCTCAGTGGGCAATGGCATCAGGGCATCAGAGCAGAGCCACGAAGCTCCAGGGAGGCCATCAGGCCAGGAGGGCAAACTTGGGAGTCCTCAGGAGATGACTGTGAAGTCTCAGGGCTGCCTGAGGTCACCTGTTCTGCCGTCACTCCTGGGTCTGCGTGGCTGGGTCCTTGTTGCTCGGGCTCTGCCCTGAGGTCCTGCCCAGCCTGCTCCACCTCCCGCTCTCCATGTCCGTTCTGCTGTGTGGCATTCGCCACTCCAAGCACCATCTGAGATTGTTTCCTGCCCTAGAGTGGTAAAGCCGTGAGGTCCGTCTGCCCTCAGCTGTGTCCCCAGGCCCAGGGCGTGCCTGGCACAGAGCAGGCCTCTGAGAACCAGCCTCCCACGTGAGTTCATGATAGCAAGACAGCCCCTCGTTCCCATTCAGTGGTTGGTTCTGTTCTTTCCCTGGCCATAGGCTCCACTCTGTCAGTCAGCCACACATTTATTGAGTACCAGTTGTGTGCAAAGCACTGTTGGGCATGAAAAGCATTAACCCAGTGAATGAGGAGGAGCTTGGGTTGGGGACGGAGCCCCAGAATTACATGGCAGACCAGAAGGGAATCAGCTCAGTAGAAGACACGCATGGGCTCGTGGGCGACGCAGTGTGTGCTGTGTCATCTGGGGCTGGGAGGAAGTGTCCTGGGTCAGGAGTTCCAGGAGCCCAGGAGGAGTGGACGGGTCAGTGCAGAGCCAGCCCGCATTCAGGGGAGAAAACACGGCCAAGGCCAGGCCTTCACGGGGAGCCCAGCGTGGGCTGCACATCTGCACTCTCCAGGCTAGTTTTGGTGCCCACATGCTCTGCAGGGTCTGGGCACTGTGGCAGCGGCAGCAGGCTTCCCTGTTGCTAGTCCAGCTGCTGAAACTCCAGGGAGAGTCAAAAAGTTCCCAAATACAGAGGCGTGGCTGGTAGTCCTTCCCGGGAATTCTTCTTGCTTCCCGCTTTCTGTGGAACTCTGCCTTCCCCACTCTGCCTCTCTGCTTGTTCCTGGGCCCCAGGACCTCTTTCCCATCTTCGATCTCTTAAGTCATACCTTGGGAGGCCTCCCCCAGCCCGCCGTGTAAAGAGGGCTGTCACAGCTTCTGCTGTCACAGAAGCATTACAATGTGCAGGTGCCTGTTAACATCTGCCTTCCCCACTGATCTGGAGCTCCACAAGGGAGAGGGCACACCCAGTAGGTATGTGTGGGATGGATAGGAGGGTGGATGACACCCAGTAGATGTGTATGGGATGGATAGGAGGGTGGATGACACCCAGTAGGTGTGTATGGGATGGATGGGAGGGTGGGTGACCCCTAGTAGATGTGGGGGGGGTGGGTGGGTGACCCCCAGTAGGTGTGTGTGGCATGGATAGGTGACCCCCAGTAGACGTTTGTGGGACGGATGGGAGGGTAGGTAAGTGACCCCCAGGAGGCGTCTATAGGGCAGGTGGGTGGATGTGGATGAACAGCACCTTGTTTCTTCTTCCCAG
Seq C2 exon
GTGGCTTCTGGCACAGCAGCTTAATTGACCGGAACCTCATTGATTATTTTGTTCCCTTCCTCCCCCTGGAATACAAACACCTAAAAATGTGTATCCGAGTGGAAATGCAGTCCCGAGGCTATGAAATTGATGAAGACATTGTAAGCAGAGTGGCTGAGGAGATGACATTTTTCCCCAAAGAGGAGAGAGTTTTCTCAGATAAAGGCTGCAAAACGGTGTTCACCAAGTTAGATTATTACTACGATGATTGACAGTCATGATTGGCAGCCGGAGTCACTGCCTGGAGTTGGAAAAGAAACAACACTCAGTCCTTCCACACTTCCACCCCCAGCTCCTTTCCCTGGAAGAGGAATCCAGTGAATGTTCCTGTTTGATGTGACAGGAATTCTCCCTGGCATTGTTTCCACCCCCTGGTGCCTGCAGGCCACCCAGGGACCACGGGCGAGGACGTGAAGCCTCCCGAACACGCACAGAAGGAAGGAGCCAGCTCCCAGCCCACTCATCGCAGGGCTCATGATTTTTTACAAATTATGTTTTAATTCCAAGTGTTTCTGTTTCAAGGAAGGATGAATAAGTTTTATTGAAAATGTGGTAACTTTATTTAAAATGATTTTTAACATTATGAGAGACTGCTCAGATTCTAAGTTGTTGGCCTTGTGTGTGTGTTTTTTTTTAAGTTCTCATCATTATTACATAGACTGTGATGTATCTTTACTGGAAATGAGCCCAAGCACACATGCATGGCATTTGTTCCACAGGAGGGCATCCCTGGGGATGTGGCTGGAGCATGAGCCAGCTCTGTCCCAGGATGGTCCCAGCGGATGCTGCCAGGGGCAGTGAAGTGTTTAGGTGAAGGACAAGTAGGTAAGAGGACGCCTTCAGGCACCACAGATAAGCCTGAAACAGCCTCTCCAAGGGTTTTCACCTTAGCAACAATGGGAGCTGTGGGAGTGATTTTGGCCACACTGTCAACATTTGTTAGAACCAGTCTTTTGAAAGAAAAGTATTTCCAACTTGTCACTTGCCAGTCACTCCGTTTTGCAAAAGGTGGCCCTTCACTGTCCATTCCAAATAGCCCACACGTGCTCTCTGCTGGATTCTAAATTATGTGAATTTTGCCATATTAAATCTTCCTCATTTATACTATTATTTGTTACGTTCAATCAGAATCCCCGAAACCTCCTATAAAGCTTAGCTGCCCCTTCTGAGGATGCTGAGAACGGTGTCTTTCTTTATAAATGCAAATGGCTACCGTTTTACAATAAAATTTTGCATGTGCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136827-TOR1A:NM_000113:4
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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