Special

HsaEX0063775 @ hg38

Exon Skipping

Gene
ENSG00000132405 | TBC1D14
Description
TBC1 domain family member 14 [Source:HGNC Symbol;Acc:HGNC:29246]
Coordinates
chr4:7001145-7006726:+
Coord C1 exon
chr4:7001145-7001251
Coord A exon
chr4:7004844-7004924
Coord C2 exon
chr4:7006632-7006726
Length
81 bp
Sequences
Splice sites
3' ss Seq
CCCAGAGGCTTTTCTTCCAGAGC
3' ss Score
3.94
5' ss Seq
AAGGTAGAA
5' ss Score
6.33
Exon sequences
Seq C1 exon
GTGGTGCTCTAGAAAAGTTCGAGATTTATGGTGGCAGGGAATCCCTCCAAGTGTGAGAGGCAAAGTCTGGAGCTTAGCCATTGGCAACGAGTTAAATATCACCCACG
Seq A exon
AGCTCTTTGACATCTGTCTTGCCCGAGCCAAGGAGAGGTGGCGGTCCCTTAGCACAGGAGGCTCTGAAGTGGAGAACGAAG
Seq C2 exon
ATGCTGGTTTTTCAGCAGCAGACAGAGAAGCCAGTCTGGAGCTTATTAAACTGGACATTTCTAGAACATTTCCTAATCTCTGCATTTTCCAGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132405-'40-34,'40-31,45-34
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

Show PDB structure
Features
Disorder rate (Iupred):
  C1=0.000 A=0.004 C2=0.008
Domain overlap (PFAM):

C1:
PF0056613=RabGAP-TBC=PU(12.5=54.1)
A:
PF0056613=RabGAP-TBC=FE(11.8=100)
C2:
PF0056613=RabGAP-TBC=FE(13.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTATGGTGGCAGGGAATCCC
R:
TGCTGGAAAATGCAGAGATTAGGA
Band lengths:
177-258
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