Special

HsaEX0063762 @ hg19

Exon Skipping

Gene
ENSG00000108239 | TBC1D12
Description
TBC1 domain family, member 12 [Source:HGNC Symbol;Acc:29082]
Coordinates
chr10:96253122-96267104:+
Coord C1 exon
chr10:96253122-96253204
Coord A exon
chr10:96256812-96256929
Coord C2 exon
chr10:96267024-96267104
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_MULTIEX1-5/12=4-7
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 Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


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