HsaINT0012965 @ hg38
Intron Retention
Gene
ENSG00000099889 | ARVCF
Description
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:HGNC:728]
Coordinates
chr22:19972925-19973317:-
Coord C1 exon
chr22:19973119-19973317
Coord A exon
chr22:19973037-19973118
Coord C2 exon
chr22:19972925-19973036
Length
82 bp
Sequences
Splice sites
5' ss Seq
CAGGTGTGG
5' ss Score
6.34
3' ss Seq
CCCCGCCCCCGGCCCCACAGCCA
3' ss Score
7.75
Exon sequences
Seq C1 exon
GGAGCTACGCCATGGCTGAGCTTGTGCGGAATGTGCGCAATGCACAGGCTCCGCCGCGACCGGGGGCCTGCCTGGAGGAAGACACCGTGGTGGCGGTGCTCAACACCATCCACGAAATCGTGTCCGACAGCCTGGATAACGCGCGCTCGCTCCTGCAGGCACGCGGGGTGCCAGCGTTGGTGGCTCTCGTGGCCTCCAG
Seq A exon
GTGTGGAGGGGCGGGGTCGGTGGCTTGGGGAGCCGCGGAGGTGGGGGAGGGGCCACCACTGACCCCGCCCCCGGCCCCACAG
Seq C2 exon
CCAATCGGTACGCGAAGCGAAGGCGGCGTCACACGTGCTGCAGACAGTGTGGAGCTACAAGGAGCTGCGTGGTACCTTGCAGAAAGATGGTTGGACCAAGGCGCGCTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000099889:ENST00000263207:14
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.045 A=NA C2=0.132
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGCTCAACACCATCCACGAA
R:
AGCTCCTTGTAGCTCCACACT
Band lengths:
170-252
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