Special

HsaINT1006053 @ hg38

Intron Retention

Gene
ENSG00000179058 | C9orf50
Description
chromosome 9 open reading frame 50 [Source:HGNC Symbol;Acc:HGNC:23677]
Coordinates
chr9:129612225-129613251:-
Coord C1 exon
chr9:129613107-129613251
Coord A exon
chr9:129612455-129613106
Coord C2 exon
chr9:129612225-129612454
Length
652 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGC
5' ss Score
8.07
3' ss Seq
GGTCCTCTGTCTCACTCTAGGAG
3' ss Score
10.47
Exon sequences
Seq C1 exon
GTCCACCCAGAAGACACAGGGCTACCTTTCTGAGGACACCTCCATGAACAGCAGCCTGCCCTTCTGTTCATGGAAGAAGGCCGCTGCTCAGAGGCCGCGAAGCAGCCTCCGAGCCTTCTTGGACCCGCACAGAAACCTGGAGCAG
Seq A exon
GTGGGCAAATGGTCTTGCTCCTGGACCTAGAAGCTGGTGAGCCCCTGCTGGCAGCTGGCTCCGGGAGCAGCCCTGTTTGGTGGAGTGGCTGGGGCTGGGAGTGGACCCTCCCTGAGAGCCAAGTCACCGTGGGGGCTTGCAGTGGCCACGCCCTGTGTTCCTGCATCTCCCTCAAAGGGCAGCTGTCAAGGGGTGGCTCTAAGCCAGGTGCCTGGGTTCCGATCACAGTTCCTTTCTGCATCTCCCCTCCCCTCCCCTCTCCTCTCTTTGCTTTTTTGAGACAGAGTGTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCAATGGGGACACCCACCACCACACCCAGCTAATTTTTGTATTTTCGGTAGAGACAGGGTTTCACTATGCTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGTCCGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCGAGAGCCACCGTGCTTGACCTTGCATTTGTTTCCTCATCTTTTAAAATGGGGCTGACAGCACTACCTGCCCAACAGGGCTTCAGCACAGAATCCCACTGGGAGCCCAGTCCCCTGCCCCGAGGTCCTGGTAGCAGCCAGCTGGTCCTCTGTCTCACTCTAG
Seq C2 exon
GAGTCCCTCCTGCCCAACCGGGTGCTGCAGTCGGTCCTGAAGCAAGGCTGCCCTAAGGGGTACCATCTCCTCCTGGCCTCCGCAACACTGCAGCCAGATAAGAGGTGAACACTCGCGAACCCAAGGCCAGGGGCACACATGGGCCAGGCAATGAGGAGCGTCCTTCCTTGCCCCACAAATAAAGGCACATCCCAGGTGGCTGGGACCTGCCAGTAGGTGTCACACCACAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000179058:ENST00000372478:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=0.133 A=NA C2=0.029
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
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCACCCAGAAGACACAGGG
R:
CCACCTGGGATGTGCCTTTAT
Band lengths:
343-995
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains