Special

HsaINT0161636 @ hg38

Intron Retention

Gene
Description
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone [Source:HGNC Symbol;Acc:HGNC:16987]
Coordinates
chr13:52662649-52663112:+
Coord C1 exon
chr13:52662649-52662702
Coord A exon
chr13:52662703-52663095
Coord C2 exon
chr13:52663096-52663112
Length
393 bp
Sequences
Splice sites
5' ss Seq
ATGGTATGT
5' ss Score
8.35
3' ss Seq
TCCTTTTTATGTTTTAATAGGCT
3' ss Score
9.31
Exon sequences
Seq C1 exon
GTGCAGATGCTAATTTCAGTGTCTGGATTAAAAGGTGTCAAGAAGCTCAGAATG
Seq A exon
GTATGTGGGTCTCCCTTGGTATTTGTTTCAATTTAAAAAGAAGTAAACATCTGAAATTTTTTTGGTTTAAACAAATTTGTTTTTATCTTTATAATTTCTTTTAAATAGTATACGTTTCCTTAGATGTGGACTTCCAAAGATACACTGGTTTTTGCATAGCTTCTTATGTTGAAAGGGGGATTTGGGTGGATTTGCTTGTATGGTATATCAGTAAGAAATTACTAAGGAGTCTAAAATGAATTCAGGATGCAAAATGAAACCACTTTTCTTTAGTTGAAAGGTACGGAGAATTTGCTTGCTTAATCAGTATGTTTGTGCTATAGAAATCATACAAATAACTTTGCTTAAAAATGCACTGTTCCCTGAAAATGTTTCCTTTTTATGTTTTAATAG
Seq C2 exon
GCTCAGAATCTGAGGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165416:ENST00000483074:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

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

C1:
PF134141=TPR_11=FE(34.0=100)
A:
NA
C2:
PF134141=TPR_11=PD(1.9=16.7)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains