HsaEX1040061 @ hg38
Exon Skipping
Gene
ENSG00000108239 | TBC1D12
Description
TBC1 domain family member 12 [Source:HGNC Symbol;Acc:HGNC:29082]
Coordinates
chr10:94441896-94444546:+
Coord C1 exon
chr10:94441896-94442019
Coord A exon
chr10:94443330-94443423
Coord C2 exon
chr10:94444446-94444546
Length
94 bp
Sequences
Splice sites
3' ss Seq
TTAATTTCTTTTTTCAAGAGACT
3' ss Score
-4.21
5' ss Seq
CAGGTATGT
5' ss Score
9.8
Exon sequences
Seq C1 exon
AAACCTTTTTCCAAAAAGGACAAAGGAACTCAAATCAGTTGTCCATAGTGCTCCTGGTTGGAAATTATTTGGTAAAGTCCCTCCTAGAGAGAATCTTCAGAAAACATCCAAAATCATTCAGCAG
Seq A exon
ACTTGGTATTGCTATGTTGCCCAGGCTGTCTTCAAACTCCTGGGCTTAAATGATGATGCTCCTGCCTCAGCTTCCTGAGAAGCTGGGACTACAG
Seq C2 exon
TCTGAAAGTAACGTCTCTCGTCTAGAATGTTTCAGAAGACCAAGTTCGCCCTCTAGAGGCAAAACGGTGGTCTTGCTACTGAAGGTTTATACAGGTATTTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108239-'13-6,'13-5,14-6
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.449 A=0.080 C2=NA
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NA
Main Inclusion Isoform:
ENST00000225235fB27610
Main Skipping Isoform:
ENST00000225235fB6936
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
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:
TCCATAGTGCTCCTGGTTGGA
R:
CCTTCAGTAGCAAGACCACCG
Band lengths:
168-262
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains