HsaEX6083490 @ hg38
Exon Skipping
Gene
ENSG00000132405 | TBC1D14
Description
TBC1 domain family member 14 [Source:HGNC Symbol;Acc:HGNC:29246]
Coordinates
chr4:7010653-7025262:+
Coord C1 exon
chr4:7010653-7010781
Coord A exon
chr4:7014448-7014557
Coord C2 exon
chr4:7025004-7025262
Length
110 bp
Sequences
Splice sites
3' ss Seq
ATTTCATATTATCTCCCTAGATG
3' ss Score
9.8
5' ss Seq
TTGGTAAGA
5' ss Score
8.85
Exon sequences
Seq C1 exon
GTCCAGGGCATGTCCTTCATAGCAGCAGTGTTGATCTTGAACTTAGATACTGCAGATGCCTTTATTGCCTTTTCTAACCTTCTGAATAAACCCTGTCAAATGGCGTTTTTTAGAGTGGACCATGGCCTT
Seq A exon
ATGTTGACTTATTTTGCTGCATTTGAAGTATTCTTTGAAGAAAATTTGCCGAAATTATTTGCGCATTTCAAGAAGAACAACCTAACTCCAGATATCTACCTAATTGATTG
Seq C2 exon
GATCTTTACCTTATATAGTAAATCTCTGCCCCTCGACCTGGCCTGTCGTATCTGGGACGTGTTCTGTCGCGATGGGGAAGAGTTCCTGTTCCGCACGGCCCTGGGCATCCTGAAGCTGTTCGAGGACATCCTGACCAAGATGGACTTCATTCACATGGCCCAGTTCCTGACCCGGCTGCCCGAGGACCTGCCCGCCGAGGAGCTGTTTGCCTCCATCGCCACGATCCAGATGCAGAGCCGAAACAAGAAGTGGGCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132405-'55-48,'55-44,60-48
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0056613=RabGAP-TBC=PD(60.0=92.9)
A:
PF0056613=RabGAP-TBC=FE(15.8=100)
C2:
PF0056613=RabGAP-TBC=PD(19.7=51.7)
Main Skipping Isoform:
ENST00000409757fB27614
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGGGCATGTCCTTCATAGC
R:
TGTCCTCGAACAGCTTCAGGA
Band lengths:
255-365
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains