Special

HsaINT0025391 @ hg19

Intron Retention

Gene
ENSG00000197768 | C9orf173
Description
chromosome 9 open reading frame 173 [Source:HGNC Symbol;Acc:37285]
Coordinates
chr9:140146190-140146587:+
Coord C1 exon
chr9:140146190-140146347
Coord A exon
chr9:140146348-140146452
Coord C2 exon
chr9:140146453-140146587
Length
105 bp
Sequences
Splice sites
5' ss Seq
TATGTGAGT
5' ss Score
5.56
3' ss Seq
AGCTTGCTTCCTGTGGCCAGTGC
3' ss Score
4.28
Exon sequences
Seq C1 exon
GCCCAAGGCATCTGTGCTGTTGTTGGGCCCGGAGCCGGGGATGGCCTGGGATGAGACACAGCCCCCAAAGATGAAGGAGATCCCAGTTGGCCTCAGGTTACAGACGGGCACCCCCCAGGAGTCCCTGCCCACCTACACCCAGACCCTGAGGGAACTAT
Seq A exon
GTGAGTGAGGGTCCTGGCCACCCCACCCCCAAGCTGGTCTTTGGGGGGCTGTGGGAGGGGCCCGCTGAAAGGAGCCCAGGCCCAGAGCTTGCTTCCTGTGGCCAG
Seq C2 exon
TGCTGGAGCAACGCCCCCTGATCACAGCTGACCTGGAAGTCCCCAGCCCCACCAGGTACCAGGTGCCGAGCCCGTCCGTACGAGAGTCCTCCCCACACCCCCACTACAGCATCGGCTGCAAGCACCAGGGCCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197768-C9orf173:NM_001004353:2
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.914 A=NA C2=0.775
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATCTGTGCTGTTGTTGGGCC
R:
GTGTGGGGAGGACTCTCGTAC
Band lengths:
247-352
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development