HsaEX0063763 @ hg19
Exon Skipping
Gene
ENSG00000108239 | TBC1D12
Description
TBC1 domain family, member 12 [Source:HGNC Symbol;Acc:29082]
Coordinates
chr10:96256812-96267104:+
Coord C1 exon
chr10:96256812-96256929
Coord A exon
chr10:96259978-96260084
Coord C2 exon
chr10:96267024-96267104
Length
107 bp
Sequences
Splice sites
3' ss Seq
TTCTCCTCCTTTAATTCTAGGCG
3' ss Score
9.95
5' ss Seq
CTGGTTTGT
5' ss Score
4.29
Exon sequences
Seq C1 exon
AAATTAAGGAAGCACATAAAAGAAAAAGAATCATGAAAGAACGATTTAAGCAGGAAGAAAATATTGCAAGTGCAATGGTAATTTGGATCAATGAAATACTGCCCAATTGGGAAGTAAT
Seq A exon
GCGTAGTACAAGAAGAGTTCGAGAATTGTGGTGGCAGGGATTGCCCCCTAGTGTCCGTGGGAAAGTTTGGAGTCTAGCTGTAGGAAATGAACTAAATATCACTCCTG
Seq C2 exon
AACTTTATGAAATCTTCCTCTCAAGAGCAAAAGAACGGTGGAAAAGTTTCAGTGAAACAAGTTCAGAGAATGATACAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108239_MULTIEX1-6/12=5-7
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.125 A=0.000 C2=0.143
Domain overlap (PFAM):
C1:
NO
A:
PF0056613=RabGAP-TBC=PU(18.9=54.1)
C2:
PF0056613=RabGAP-TBC=FE(11.9=100)

Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAAGCACATAAAAGAAAAAGAATCA
R:
TGTATCATTCTCTGAACTTGTTTCAC
Band lengths:
188-295
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
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)