HsaEX0062848 @ hg38
Exon Skipping
Gene
ENSG00000165416 | SUGT1
Description
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone [Source:HGNC Symbol;Acc:HGNC:16987]
Coordinates
chr13:52666812-52700909:+
Coord C1 exon
chr13:52666812-52666919
Coord A exon
chr13:52680092-52680155
Coord C2 exon
chr13:52687734-52700909
Length
64 bp
Sequences
Splice sites
3' ss Seq
GGAGATGCAGCTTTAAACAGATT
3' ss Score
-2.88
5' ss Seq
TTTGTAAGA
5' ss Score
3.14
Exon sequences
Seq C1 exon
TTGTCTGCTTTGGTTAAACTTCCTTCTGGAGAGGATTACAATTTGAAACTGGAACTTCTTCATCCTATAATACCAGAACAGAGCACGTTTAAAGTACTTTCAACAAAG
Seq A exon
ATTATTTCAGCAGATCTATTCAGATGGTTCTGATGAAGTGAAACGTGCCATGAACAAATCCTTT
Seq C2 exon
ATGGAGTCGGGTGGTACAGTTTTGAGTACCAACTGGTCTGATGTAGGTAAAAGGAAAGTTGAAATCAATCCTCCTGATGATATGGAATGGAAAAAGTACTAAATAAATTAATTTGCTCTCATCGTATTGTGTATATTCACCTAATGCCCATTGTGTATTGATATTGCATTCTTGAATTTTGAACACTGAATATCTTTTTGAAAGATTATACTTCTTTACCTCTTTGTGCTTTAGAAATTATTTTCCTTCAAGTGTTCAAGTCTAATGAAGAATGAAGATAACATTTTATCACTTCTGTCCTTAAAGGTTTCAGACATGGTGAAACTGAATAAAGCATGTCATTTGCTCCTAGATAGATTCATTCTATCTAGTTGTGGGGATGGAGAAATCTTTAATGGTATATTTTCGGTTATTGCCTTATTTTTGATACAGTATTCTGTCAGTAATTTATTAGACCTGGCAGCTTTGGGTGAGCTTAGATTTTTCACCTTCAGTGTTAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165416_MULTIEX2-3/3=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.164 C2=0.333
Domain overlap (PFAM):
C1:
PF0496911=CS=FE(45.5=100)
A:
PF0500210=SGS=PU(58.5=78.7)
C2:
PF0500210=SGS=PD(39.0=94.1)
Main Skipping Isoform:
ENST00000343788fB27268
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTCTGCTTTGGTTAAACTTCCT
R:
ACTCAAAACTGTACCACCCGAC
Band lengths:
134-198
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development