HsaEX0063762 @ hg38
Exon Skipping
Gene
ENSG00000108239 | TBC1D12
Description
TBC1 domain family member 12 [Source:HGNC Symbol;Acc:HGNC:29082]
Coordinates
chr10:94493365-94507347:+
Coord C1 exon
chr10:94493365-94493447
Coord A exon
chr10:94497055-94497172
Coord C2 exon
chr10:94507267-94507347
Length
118 bp
Sequences
Splice sites
3' ss Seq
TTTTTACTCGTTTAAAACAGAAA
3' ss Score
6.27
5' ss Seq
AATGTAAGT
5' ss Score
8.62
Exon sequences
Seq C1 exon
AAATCTTCCTGCCAAATCTGTGGAAGAAGCTTTACGTCACCGACAAGAATACGATGAGATGGTGGCTGAGGCTAAAAAACGAG
Seq A exon
AAATTAAGGAAGCACATAAAAGAAAAAGAATCATGAAAGAACGATTTAAGCAGGAAGAAAATATTGCAAGTGCAATGGTAATTTGGATCAATGAAATACTGCCCAATTGGGAAGTAAT
Seq C2 exon
AACTTTATGAAATCTTCCTCTCAAGAGCAAAAGAACGGTGGAAAAGTTTCAGTGAAACAAGTTCAGAGAATGATACAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108239_MULTIEX1-7/15=6-9
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.241 A=0.125 C2=0.143
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0056613=RabGAP-TBC=FE(11.9=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATCTTCCTGCCAAATCTGTGGA
R:
CTTCTGTATCATTCTCTGAACTTGTT
Band lengths:
162-280
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development