HsaEX1040129 @ hg38
Exon Skipping
Gene
ENSG00000274933 | TBC1D3I
Description
TBC1 domain family member 3I [Source:HGNC Symbol;Acc:HGNC:32709]
Coordinates
chr17:36256008-36257115:-
Coord C1 exon
chr17:36257021-36257115
Coord A exon
chr17:36256571-36256636
Coord C2 exon
chr17:36256008-36256107
Length
66 bp
Sequences
Splice sites
3' ss Seq
ACCTCTGTTGCTTCCATCAGGAC
3' ss Score
9.9
5' ss Seq
GGGGTAAGG
5' ss Score
8.05
Exon sequences
Seq C1 exon
GATTTCACAGCCCAAATGGCGGGACCGTCCAGGGGCTCCAAGACCAACAGGAGCATGTGGTAGCCACGTCACAACCCAAGACCATGGGGCATCAG
Seq A exon
GACAAGAAAGATCTATGTGGGCAGTGTTCCCCGTTAGGCTGCCTCATCCGGATATTGATTGACGGG
Seq C2 exon
ATCTCTCTCGGGCTCACCCTGCGCCTGTGGGACGTGTATCTGGTAGAAGGCGAACAGGCGTTGATGCCGATAACAAGAATCGCCTTTAAGGTTCAGCAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000274933_MULTIEX1-1/3=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.792 A=0.045 C2=0.000
Domain overlap (PFAM):
C1:
PF0056613=RabGAP-TBC=FE(19.6=100)
A:
PF0056613=RabGAP-TBC=FE(10.0=100)
C2:
PF0056613=RabGAP-TBC=FE(15.7=100)
Other Inclusion Isoforms:
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:
CGTCCAGGGGCTCCAAGA
R:
TCTGCTGAACCTTAAAGGCGA
Band lengths:
170-236
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains