HsaEX0063778 @ hg38
Exon Skipping
Gene
ENSG00000132405 | TBC1D14
Description
TBC1 domain family member 14 [Source:HGNC Symbol;Acc:HGNC:29246]
Coordinates
chr4:7006632-7010781:+
Coord C1 exon
chr4:7006632-7006726
Coord A exon
chr4:7009877-7009948
Coord C2 exon
chr4:7010653-7010781
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_MULTIEX3-7/7=5-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.008 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 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:
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