HsaEX1041639 @ hg38
Exon Skipping
Gene
ENSG00000136816 | TOR1B
Description
torsin family 1 member B [Source:HGNC Symbol;Acc:HGNC:11995]
Coordinates
chr9:129809342-129811281:+
Coord C1 exon
chr9:129809342-129809600
Coord A exon
chr9:129809816-129810129
Coord C2 exon
chr9:129810227-129811281
Length
314 bp
Sequences
Splice sites
3' ss Seq
GGTTTGAGTGATTCTCATGCCTC
3' ss Score
-15.72
5' ss Seq
CAGGCTGGG
5' ss Score
-2.49
Exon sequences
Seq C1 exon
GTGGCCTGTGGCACAGTGGACTGATCGACAAAAACCTCATTGATTACTTTATCCCCTTCCTGCCTTTGGAGTACAGACATGTGAAAATGTGTGTGAGGGCCGAGATGAGGGCCCGTGGTTCTGCCATAGATGAAGACATTGTCACAAGAGTGGCAGAGGAAATGACGTTTTTCCCCAGAGACGAGAAAATCTACTCAGACAAGGGCTGCAAGACTGTGCAGTCGCGGCTGGATTTCCACTGAGCTCCTATCCAGATGGG
Seq A exon
CTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCTGGGATATAGAATCTAAGAGTTGATTGTGGAAAACACGTGAATCTATTGCGCGCATTTGTCATTTAGCAAGATGGCAGCAGTCCAGCTGTTCTTTGCAGCTGGAGATGAACTTTTAAAAATCCCCTTCACACTTAATGTACTGACCGAGACAGAAGTACCTGAAAACAGCTGTGCATGGCAGGCCCGGCAATAGCTTCTGACCCACAGCACCCGCGCCTCAGAAGCTACGGTCACAACTAAAGGAGTCCAGGGACTTGCTGCAG
Seq C2 exon
AGTTCACTGACTTGAAGTATACTCAGTTAAAATCGGGGCTGGAGGTGCAGACGGTGTCTGACCGGAGGATGTGGCCGTGCCCGCCGAGCACTCTTGATCTGAGCTGACCTGTGTGTGTGTGTGTGGGGGGGTGGGGCCTTCACCTAAGACCTCTGCAGCAGACCTGGACAGACAGGCCCCTCCCGCCTGTCCATCGCTCTAGCTGCTAATACAGCCCTGGCTGTGGAATCCTTCACCGTCTCAGCTGGTATCAGCCCCAGCCTGCCTTGTGCCATATCTCAGCTTGGATCTCTGCTAGAGTCCCCCCAACCATATATCATAGAGTTGAATCACAATGAGACCGTTGGCTTTGAATTTGAGTCGTTGGTTCCCATGGTGAGATGCTTGTTAAGACTTTATACTTGGGTCAATCTCTCACTTTATTTTGTAGAACCATTTGAAATCCTAGGATGTGCTTGTTCTGGAAGGATGACATGGGCCCAGACTGAACAAGTCAGCTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136816_MULTIEX1-6/6=5-C2
Average complexity
C3
Mappability confidence:
100%=90=100%
Protein Impact
NA
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF063096=Torsin=PD(3.7=66.7)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGTGGCACAGTGGACTGATC
R:
CTCAGATCAAGAGTGCTCGGC
Band lengths:
357-671
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains