HsaEX1040106 @ 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
chr17:18638313-18638420
Coord C2 exon
chr17:18637864-18637973
Length
108 bp
Sequences
Splice sites
3' ss Seq
GAGTGTTCTTCTGTCTGTAGCTG
3' ss Score
7.47
5' ss Seq
AAGGTAAGT
5' ss Score
11
Exon sequences
Seq C1 exon
AAGAGCAACCCTGAAAAATTACTGAATGTGAAGAAAT
Seq A exon
CTGTCTCAAAGAGTATGCAAAGTCATTCCCCTGGCGGTGCGGGGCCGGGCGTTGTCACTTTTGCTAGATATTGACAAAATCAAGTCCCAGAACCCAGGCAAATATAAG
Seq C2 exon
GTCATGAAGGAGAAGGGCAAGAGGTCCTCCAGAATCATCCACTGCATCCAGCTAGATGTCAGCCACACCCTGCAGAAACACATGATGTTCATACAAAGATTCGGAGTCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000189375_MULTIEX1-8/8=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.056 C2=0.054
Domain overlap (PFAM):
C1:
NA
A:
PF0056613=RabGAP-TBC=PU(26.0=69.4)
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:
TTGACTCCGAATCTTTGTATGAACA
Band lengths:
146-254
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains