Special

HsaEX6083493 @ hg38

Exon Skipping

Gene
ENSG00000132405 | TBC1D14
Description
TBC1 domain family member 14 [Source:HGNC Symbol;Acc:HGNC:29246]
Coordinates
chr4:6996325-7004924:+
Coord C1 exon
chr4:6996325-6996407
Coord A exon
chr4:6999085-6999202
Coord C2 exon
chr4:7004844-7004924
Length
118 bp
Sequences
Splice sites
3' ss Seq
TTCTAAATTGTGATTTCTAGAGC
3' ss Score
6.07
5' ss Seq
AATGTAAGA
5' ss Score
5.55
Exon sequences
Seq C1 exon
AAATCTCCCAGCAAAACCAGCTGAAGAAGCTCAGAAGCACAGACAGCAGTATGAAGAAATGGTGGTTCAGGCCAAAAAGCGAG
Seq A exon
AGCTGAAAGAAGCCCAGCGAAGGAAGAAGCAGCTGGAAGAAAGATGCAGAGTCGAGGAAAGCATTGGAAACGCTGTGCTCACCTGGAATAATGAGATCTTACCTAACTGGGAAACAAT
Seq C2 exon
AGCTCTTTGACATCTGTCTTGCCCGAGCCAAGGAGAGGTGGCGGTCCCTTAGCACAGGAGGCTCTGAAGTGGAGAACGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132405_MULTIEX3-2/7=1-4
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.798 A=0.166 C2=0.004
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0056613=RabGAP-TBC=FE(11.8=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:
AAATCTCCCAGCAAAACCAGCT
R:
TCGTTCTCCACTTCAGAGCCT
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