HsaEX0063766 @ hg38
Exon Skipping
Gene
ENSG00000108239 | TBC1D12
Description
TBC1 domain family member 12 [Source:HGNC Symbol;Acc:HGNC:29082]
Coordinates
chr10:94510091-94531460:+
Coord C1 exon
chr10:94510091-94510179
Coord A exon
chr10:94511583-94511654
Coord C2 exon
chr10:94531202-94531460
Length
72 bp
Sequences
Splice sites
3' ss Seq
TTTCATTTTTCTCTCCTAAGGGT
3' ss Score
9.95
5' ss Seq
TATGTAAGT
5' ss Score
6.69
Exon sequences
Seq C1 exon
GTGTATCTGTTGCTGATCGAGAGGCCAGTCTGGAATTAATTAAGTTGGACATATCCCGTACATTTCCATCTCTCTACATCTTTCAGAAG
Seq A exon
GGTGGTCCATATCATGATGTCTTGCATAGTATTTTAGGGGCATACACATGCTACAGGCCTGATGTTGGTTAT
Seq C2 exon
GATCTTCACACTATATAGCAAATCACTACCACTTGATCTGGCCTGTCGAGTCTGGGATGTATTTTGCAGAGATGGGGAAGAATTTTTATTTAGGACTGGATTAGGAATCCTCCGATTATATGAAGATATTCTCCTGCAGATGGACTTTATTCATATAGCACAGTTTCTAACTAAATTGCCAGAAGATATCACATCGGAAAAGCTGTTCAGTTGTATTGCAGCCATTCAGATGCAGAATAGCACCAAAAAATGGACTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108239_MULTIEX1-11/15=10-15
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.067 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0056613=RabGAP-TBC=FE(12.8=100)
A:
PF0056613=RabGAP-TBC=FE(10.2=100)
C2:
PF0056613=RabGAP-TBC=PD(19.9=51.7)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
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:
ATCTGTTGCTGATCGAGAGGC
R:
TTCTTCCCCATCTCTGCAAAA
Band lengths:
167-239
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