Special

HsaEX0063778 @ hg19

Exon Skipping

Gene
ENSG00000132405 | TBC1D14
Description
TBC1 domain family, member 14 [Source:HGNC Symbol;Acc:29246]
Coordinates
chr4:7008359-7012508:+
Coord C1 exon
chr4:7008359-7008453
Coord A exon
chr4:7011604-7011675
Coord C2 exon
chr4:7012380-7012508
Length
72 bp
Sequences
Splice sites
3' ss Seq
TGCTGTGTTGATCCTTTTAGGGT
3' ss Score
9.48
5' ss Seq
TATGTAAGT
5' ss Score
6.69
Exon sequences
Seq C1 exon
ATGCTGGTTTTTCAGCAGCAGACAGAGAAGCCAGTCTGGAGCTTATTAAACTGGACATTTCTAGAACATTTCCTAATCTCTGCATTTTCCAGCAA
Seq A exon
GGTGGTCCATATCATGACATGTTGCACAGTATTTTGGGCGCTTATACTTGTTACCGGCCAGATGTGGGTTAT
Seq C2 exon
GTCCAGGGCATGTCCTTCATAGCAGCAGTGTTGATCTTGAACTTAGATACTGCAGATGCCTTTATTGCCTTTTCTAACCTTCTGAATAAACCCTGTCAAATGGCGTTTTTTAGAGTGGACCATGGCCTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132405_MULTIEX1-5/5=3-C2
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=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0056613=RabGAP-TBC=FE(13.6=100)
A:
PF0056613=RabGAP-TBC=FE(10.1=100)
C2:
PF0056613=RabGAP-TBC=PD(60.0=92.9)


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:
AGAGAAGCCAGTCTGGAGCTT
R:
AAACGCCATTTGACAGGGTTT
Band lengths:
180-252
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