HsaINT0171036 @ hg19
Intron Retention
Gene
ENSG00000186283 | TOR3A
Description
torsin family 3, member A [Source:HGNC Symbol;Acc:11997]
Coordinates
chr1:179063228-179065129:+
Coord C1 exon
chr1:179063228-179063352
Coord A exon
chr1:179063353-179064102
Coord C2 exon
chr1:179064103-179065129
Length
750 bp
Sequences
Splice sites
5' ss Seq
TAGGTGAGT
5' ss Score
8.83
3' ss Seq
AACTTTGGTCTTGCTTTCAGACA
3' ss Score
7.65
Exon sequences
Seq C1 exon
TAATCTCAGGGGCGATATAATCAATGAGGTGGTCCTAAAGTTGCTCAAGGCTGGATGGTCCCGGGAAGAAATTACGATGGAACACCTGGAGCCCCACCTCCAGGCGGAGATTGTGGAGACCATAG
Seq A exon
GTGAGTAACTGACTCAATATGCCTCTGGTGAGAGCCACAGCTGGTGATAATTAATGTGTTTGTTGGAATGTGTGTTTATGAAGCAGACAGGGTACTTGGGAACACAGAGGGCAGACTATAATCATCTCACATTGTCAACCCTGGGTGGGCACAAGAAAAGTGGTAAGAAAGCCTGAGCTCCTTTTCTGGGAATGCTTGGAAATAGTAGTTTGCACTGGCCCCAAGAACAGGCGCAGTGGTCTCTGAAGCCTGAGACTCTGAGTCTCACTGCAAGACTTTACCTAAAGGAGACACAGCTGTAGAGTTCTTGACATACGCTGCAGACAGCACTCCTGGAGTTGAGAGATGAGATCCAACCTCACCCAGCCCCTTCAGTCGGGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGCGGATCACTTGAGTCCAGGAGATCTAGACCAGTCTGGCCAACATAGTGAAACCCCGTCTCTAGAAAAAAAACAAAAATTAGCCAGGTGTGGTGCTGTACGCCTGTGGTCCCAGTTACTCACAGGCTGAGATGGGAGGATCCCTTGAACCTAGGAGGTGGAGGCTGCAAGGAGCCCAGATCTCACCACTGCACTCCAGCCTGGTTGACAGAGCAAGCCCCTGTTTCAAAGAAACCAACAGCAACCCCCACCCCCGCTAAATTCCAGCTAGGTTCAGTCCTAGGTCAGACTCCATGTAACTTTGGTCTTGCTTTCAG
Seq C2 exon
ACAATGGCTTTGGCCACAGCCGTCTTGTGAAGGAAAACCTGATTGACTACTTCATCCCCTTCCTGCCTTTGGAGTACCGTCACGTGAGGCTGTGTGCACGGGATGCCTTCCTGAGCCAGGAGCTCCTGTATAAAGAAGAGACACTGGATGAAATAGCCCAGATGATGGTGTATGTCCCCAAGGAGGAACAACTCTTTTCTTCCCAGGGCTGCAAGTCTATTTCCCAGAGGATTAACTACTTCCTGTCATGAAGGCTAGAGGAAGACTTCCTGGAACTGCCTTTCTTCCACTAACAGGACCCTGGGACCTGTAGGAGCACCCCGTTTGGGACTGTGAGGTGTTTGAGGGTGTGGACTGGCATCCAGCAGCCACTAACAAACACACAACTGGTGTGTAAAAGGCAGGCCTTACATTAGAAGCCAAGCCAATCCTTTTTCTTTTTTTTGGAGGTCCCACCGAGATAGATAGGAACTTGGATTGCTGAATTCAAAAACAGAGCCCATTCTTAAGATCACTTGGTGCCTTAAAGACACGCATTCCAAAGTGGAATGTGGTTGAAGAAAGTGGGCCAGGTGGTTGAAGAAAGCCATGTGGGAGCTCAGCAAATCCCAAGGGCTTATTATGACACTCCAGATGGTCTCCTTAGCATCTCAGCTCTTCTGCAAGGAAGAGCTTGGGTGTTAGGCCTCAGAGGCTGTAGGGTCCTTGGGTTACAGAGCCGGGGAGAACGAAGTTCTGTGACCCAGGGGTGGAGAATACACTCTAGGTTTGCAGGCTGGTGGGCTTTCAAATTGGTACTTCCAGAGGAAAGCCAAGCTGCTTCTGTTGTGAGCGAATCAGCCAAGAGCCTGAGGCTGAAGGGAAAAGTACACAGAGGAAGATATTTTACAAACCAGGTCAGTGTAGGCCAAGACTTATGGTCTACAGATTTTGGCGGGGGAGGGGGGACCTTTTCAAAGACAATAGGGGGTCTTGACATGTTTGTTGTATGTAAAGATGATAAGATTAAAATTTTTGATTTTCCTAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186283-TOR3A:NM_022371:5
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:
PF042559=DUF433=WD(100=83.7)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGATGGTCCCGGGAAGAAAT
R:
AGGCAGTTCCAGGAAGTCTTC
Band lengths:
355-1105
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)