Special

HsaEX0063766 @ hg19

Exon Skipping

Gene
ENSG00000108239 | TBC1D12
Description
TBC1 domain family, member 12 [Source:HGNC Symbol;Acc:29082]
Coordinates
chr10:96269848-96281840:+
Coord C1 exon
chr10:96269848-96269936
Coord A exon
chr10:96271340-96271411
Coord C2 exon
chr10:96281712-96281840
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
GTCCAAGGGATGTCCTTCATTGCAGCAGTACTCATTCTCAATTTGGAAGAGGCAGATGCCTTTATCGCATTTGCCAATCTCCTGAATAAGCCATGCCAGTTGGCCTTTTTTCGTGTGGATCACAGCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108239_MULTIEX1-9/12=8-10
Average complexity
S
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=FE(18.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATCTGTTGCTGATCGAGAGGC
R:
TCAGGAGATTGGCAAATGCGA
Band lengths:
170-242
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