Special

HsaEX6040478 @ hg38

Exon Skipping

Gene
Description
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone [Source:HGNC Symbol;Acc:HGNC:16987]
Coordinates
chr13:52659179-52662702:+
Coord C1 exon
chr13:52659179-52659249
Coord A exon
chr13:52661475-52661570
Coord C2 exon
chr13:52662649-52662702
Length
96 bp
Sequences
Splice sites
3' ss Seq
GCTAATTTTTGTATTTTTAGTAG
3' ss Score
3.6
5' ss Seq
CAGGTATGA
5' ss Score
9.46
Exon sequences
Seq C1 exon
AATATGTGAATACCATGAAAAAAACTATGCTGCTGCCCTAGAAACTTTTACAGAAGGACAAAAATTAGATA
Seq A exon
TAGAGACGGGGTTTCATCGTGTTGGCCAGGCTGGTCTCCAACTCTTGACCTCAAGTGATCCACCTGCCTTGGACTCCCAAAGTGCTGGGATTACAG
Seq C2 exon
GTGCAGATGCTAATTTCAGTGTCTGGATTAAAAGGTGTCAAGAAGCTCAGAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165416-'15-18,'15-15,18-18=AN
Average complexity
A_S
Mappability confidence:
82%=83=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.061 C2=0.000
Domain overlap (PFAM):

C1:
PF134141=TPR_11=FE(45.3=100)
A:
NO
C2:
PF134141=TPR_11=FE(34.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Other assemblies
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:
AACTATGCTGCTGCCCTAGAA
R:
CATTCTGAGCTTCTTGACACCT
Band lengths:
103-199
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains