Special

HsaEX0063764 @ hg19

Exon Skipping

Gene
ENSG00000108239 | TBC1D12
Description
TBC1 domain family, member 12 [Source:HGNC Symbol;Acc:29082]
Coordinates
chr10:96259978-96269936:+
Coord C1 exon
chr10:96259978-96260084
Coord A exon
chr10:96267024-96267104
Coord C2 exon
chr10:96269848-96269936
Length
81 bp
Sequences
Splice sites
3' ss Seq
GTTCTCCCCCCAACCCCCAGAAC
3' ss Score
8.53
5' ss Seq
AAGGTGTGA
5' ss Score
4.59
Exon sequences
Seq C1 exon
GCGTAGTACAAGAAGAGTTCGAGAATTGTGGTGGCAGGGATTGCCCCCTAGTGTCCGTGGGAAAGTTTGGAGTCTAGCTGTAGGAAATGAACTAAATATCACTCCTG
Seq A exon
AACTTTATGAAATCTTCCTCTCAAGAGCAAAAGAACGGTGGAAAAGTTTCAGTGAAACAAGTTCAGAGAATGATACAGAAG
Seq C2 exon
GTGTATCTGTTGCTGATCGAGAGGCCAGTCTGGAATTAATTAAGTTGGACATATCCCGTACATTTCCATCTCTCTACATCTTTCAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108239_MULTIEX1-7/12=6-8
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

Show structural model
Features
Disorder rate (Iupred):
  C1=0.000 A=0.143 C2=0.067
Domain overlap (PFAM):

C1:
PF0056613=RabGAP-TBC=PU(18.9=54.1)
A:
PF0056613=RabGAP-TBC=FE(11.9=100)
C2:
PF0056613=RabGAP-TBC=FE(12.8=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal3)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTCGAGAATTGTGGTGGCAGG
R:
TGTAGAGAGATGGAAATGTACGGGA
Band lengths:
168-249
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