HsaEX6083492 @ hg38
Exon Skipping
Gene
ENSG00000132405 | TBC1D14
Description
TBC1 domain family member 14 [Source:HGNC Symbol;Acc:HGNC:29246]
Coordinates
chr4:6999085-7004924:+
Coord C1 exon
chr4:6999085-6999202
Coord A exon
chr4:7001145-7001251
Coord C2 exon
chr4:7004844-7004924
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_MULTIEX3-3/7=2-4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.166 A=0.000 C2=0.004
Domain overlap (PFAM):
C1:
NO
A:
PF0056613=RabGAP-TBC=PU(12.5=54.1)
C2:
PF0056613=RabGAP-TBC=FE(11.8=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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