HsaEX0063756 @ hg38
Exon Skipping
Gene
ENSG00000108239 | TBC1D12
Description
TBC1 domain family member 12 [Source:HGNC Symbol;Acc:HGNC:29082]
Coordinates
chr10:94511583-94531460:+
Coord C1 exon
chr10:94511583-94511654
Coord A exon
chr10:94521955-94522083
Coord C2 exon
chr10:94531202-94531460
Length
129 bp
Sequences
Splice sites
3' ss Seq
AAATTTTTCTCCCTTTGAAGGTC
3' ss Score
9.4
5' ss Seq
ATGGTATGA
5' ss Score
6.56
Exon sequences
Seq C1 exon
GGTGGTCCATATCATGATGTCTTGCATAGTATTTTAGGGGCATACACATGCTACAGGCCTGATGTTGGTTAT
Seq A exon
GTCCAAGGGATGTCCTTCATTGCAGCAGTACTCATTCTCAATTTGGAAGAGGCAGATGCCTTTATCGCATTTGCCAATCTCCTGAATAAGCCATGCCAGTTGGCCTTTTTTCGTGTGGATCACAGCATG
Seq C2 exon
GATCTTCACACTATATAGCAAATCACTACCACTTGATCTGGCCTGTCGAGTCTGGGATGTATTTTGCAGAGATGGGGAAGAATTTTTATTTAGGACTGGATTAGGAATCCTCCGATTATATGAAGATATTCTCCTGCAGATGGACTTTATTCATATAGCACAGTTTCTAACTAAATTGCCAGAAGATATCACATCGGAAAAGCTGTTCAGTTGTATTGCAGCCATTCAGATGCAGAATAGCACCAAAAAATGGACTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108239_MULTIEX1-13/15=11-15
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0056613=RabGAP-TBC=FE(10.2=100)
A:
PF0056613=RabGAP-TBC=FE(18.6=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
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTACAGGCCTGATGTTGGTT
R:
GGCTGCAATACAACTGAACAGC
Band lengths:
246-375
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