Special

HsaEX6083492 @ hg19

Exon Skipping

Gene
ENSG00000132405 | TBC1D14
Description
TBC1 domain family, member 14 [Source:HGNC Symbol;Acc:29246]
Coordinates
chr4:7000812-7006651:+
Coord C1 exon
chr4:7000812-7000929
Coord A exon
chr4:7002872-7002978
Coord C2 exon
chr4:7006571-7006651
Length
107 bp
Sequences
Splice sites
3' ss Seq
CTGCTTCTGTTTTTGTCCAGGTG
3' ss Score
10.6
5' ss Seq
ACGGTGAGT
5' ss Score
11.45
Exon sequences
Seq C1 exon
AGCTGAAAGAAGCCCAGCGAAGGAAGAAGCAGCTGGAAGAAAGATGCAGAGTCGAGGAAAGCATTGGAAACGCTGTGCTCACCTGGAATAATGAGATCTTACCTAACTGGGAAACAAT
Seq A exon
GTGGTGCTCTAGAAAAGTTCGAGATTTATGGTGGCAGGGAATCCCTCCAAGTGTGAGAGGCAAAGTCTGGAGCTTAGCCATTGGCAACGAGTTAAATATCACCCACG
Seq C2 exon
AGCTCTTTGACATCTGTCTTGCCCGAGCCAAGGAGAGGTGGCGGTCCCTTAGCACAGGAGGCTCTGAAGTGGAGAACGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132405-'14-17,'14-16,16-17=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.193 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF085986=Sds3=PD(38.6=85.0)
A:
PF0056613=RabGAP-TBC=PU(23.0=54.1)
C2:
PF0056613=RabGAP-TBC=FE(11.8=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGAAAGAAGCCCAGCGAAGG
R:
TCGTTCTCCACTTCAGAGCCT
Band lengths:
195-302
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains