HsaEX1040104 @ hg38
Exon Skipping
Gene
ENSG00000189375 | TBC1D28
Description
TBC1 domain family member 28 [Source:HGNC Symbol;Acc:HGNC:26858]
Coordinates
chr17:18637864-18661950:-
Coord C1 exon
chr17:18661914-18661950
Coord A exon
chr17:18639175-18639214
Coord C2 exon
chr17:18637864-18637973
Length
40 bp
Sequences
Splice sites
3' ss Seq
CTGCCTGGGTTGCCTTACAGTGA
3' ss Score
7.31
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
AAGAGCAACCCTGAAAAATTACTGAATGTGAAGAAAT
Seq A exon
TGAGATGGAGCTGCCCCGCGTCAGTGCCCTGGAGGTGAAG
Seq C2 exon
GTCATGAAGGAGAAGGGCAAGAGGTCCTCCAGAATCATCCACTGCATCCAGCTAGATGTCAGCCACACCCTGCAGAAACACATGATGTTCATACAAAGATTCGGAGTCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000189375_MULTIEX1-6/8=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.247 C2=0.054
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
PF0056613=RabGAP-TBC=FE(37.5=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAGCAACCCTGAAAAATTACTGA
R:
TGACTCCGAATCTTTGTATGAACA
Band lengths:
145-185
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains