Special

HsaEX6083491 @ hg19

Exon Skipping

Gene
ENSG00000132405 | TBC1D14
Description
TBC1 domain family, member 14 [Source:HGNC Symbol;Acc:29246]
Coordinates
chr4:7011604-7016284:+
Coord C1 exon
chr4:7011604-7011675
Coord A exon
chr4:7012380-7012508
Coord C2 exon
chr4:7016175-7016284
Length
129 bp
Sequences
Splice sites
3' ss Seq
GCCTTTCTCTCCTCTCTCAGGTC
3' ss Score
12.68
5' ss Seq
CTTGTGAGT
5' ss Score
7.15
Exon sequences
Seq C1 exon
GGTGGTCCATATCATGACATGTTGCACAGTATTTTGGGCGCTTATACTTGTTACCGGCCAGATGTGGGTTAT
Seq A exon
GTCCAGGGCATGTCCTTCATAGCAGCAGTGTTGATCTTGAACTTAGATACTGCAGATGCCTTTATTGCCTTTTCTAACCTTCTGAATAAACCCTGTCAAATGGCGTTTTTTAGAGTGGACCATGGCCTT
Seq C2 exon
ATGTTGACTTATTTTGCTGCATTTGAAGTATTCTTTGAAGAAAATTTGCCGAAATTATTTGCGCATTTCAAGAAGAACAACCTAACTCCAGATATCTACCTAATTGATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132405-'21-23,'21-21,23-23=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0056613=RabGAP-TBC=FE(10.1=100)
A:
PF0056613=RabGAP-TBC=FE(18.4=100)
C2:
PF0056613=RabGAP-TBC=FE(15.8=100)


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:
TGGTCCATATCATGACATGTTGCA
R:
AGGTAGATATCTGGAGTTAGGTTGT
Band lengths:
171-300
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains