Special

HsaEX0063877 @ hg19

Exon Skipping

Gene
ENSG00000197681 | TBC1D3
Description
TBC1 domain family, member 3 [Source:HGNC Symbol;Acc:19031]
Coordinates
chr17:36340099-36341206:-
Coord C1 exon
chr17:36341112-36341206
Coord A exon
chr17:36340662-36340727
Coord C2 exon
chr17:36340099-36340198
Length
66 bp
Sequences
Splice sites
3' ss Seq
ACCTCTGTTGCTTCCATCAGGAC
3' ss Score
9.9
5' ss Seq
GGGGTAAGG
5' ss Score
8.05
Exon sequences
Seq C1 exon
GATTTCACAGCCCAAATGGCGGGACCGTCCAGGGGCTCCAAGACCAACAGGAGCATGTGGTAGCCACGTCACAACCCAAGACCATGGGGCATCAG
Seq A exon
GACAAGAAAGATCTATGTGGGCAGTGTTCCCCGTTAGGCTGCCTCATCCGGATATTGATTGACGGG
Seq C2 exon
ATCTCTCTCGGGCTCACCCTGCGCCTGTGGGACGTGTATCTGGTAGAAGGCGAACAGGCGTTGATGCCGATAACAAGAATCGCCTTTAAGGTTCAGCAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197681_MULTIEX1-1/3=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

Show structural model
Features
Disorder rate (Iupred):
  C1=0.631 A=0.045 C2=0.000
Domain overlap (PFAM):

C1:
PF0056613=RabGAP-TBC=FE(19.6=100)
A:
PF0056613=RabGAP-TBC=FE(10.0=100)
C2:
PF0056613=RabGAP-TBC=FE(15.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGTCCAGGGGCTCCAAGA
R:
TCTGCTGAACCTTAAAGGCGA
Band lengths:
170-236
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development