HsaINT0012977 @ hg38
Intron Retention
Gene
ENSG00000099889 | ARVCF
Description
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:HGNC:728]
Coordinates
chr22:19977415-19978075:-
Coord C1 exon
chr22:19977958-19978075
Coord A exon
chr22:19977587-19977957
Coord C2 exon
chr22:19977415-19977586
Length
371 bp
Sequences
Splice sites
5' ss Seq
AAGGTGGGC
5' ss Score
7.93
3' ss Seq
CCACTCACCTCTCCCTGCAGTCG
3' ss Score
9.24
Exon sequences
Seq C1 exon
GAATGTGAGCTCCGATGGTGCTGAGGCCCGGCGGCGACTCCGGGAGTGTGAAGGGCTGGTGGACGCGCTCCTGCATGCCCTGCAGTCGGCTGTGGGCCGGAAGGACACTGACAACAAG
Seq A exon
GTGGGCAGGGACGGTCACAGCCTCATACCAAGGGCTGGAGAGACGATCATGCAGGTCCCAGGAGGCTGGAACTGTGGGAGCAGCACAGGGGAATGGGCTTGTGGGTCTGGGGTGGCGTTCTGGGTGTGGCCCGCCTCGCAGTGACCACACTGAAGTGGGCACCGTCCTGCAGGCAGAAGGTGTGCCGTGAGGGCAGAGGCTTCCTCCCATGGACCCTTCCTGGCGGTTACCGCCCTTTTGCTCCCCTCCACTGAGGACTCCCTGTTCCTTTGCTCCCGGTGCCCTCATGCACACCAGCTGTGGCCAGTCTTTCCTGAGGGCCAGCCCTGTGCCTAGGGTGCCCTGCCCCACCCACTCACCTCTCCCTGCAG
Seq C2 exon
TCGGTGGAGAACTGCGTGTGCATCATGCGGAACCTGTCCTACCACGTGCACAAGGAGGTGCCCGGGGCCGACAGGTACCAGGAGGCCGAGCCCGGGCCCCTGGGCAGTGCTGTAGGCTCCCAGCGCCGGAGGCGGGATGATGCCAGCTGCTTTGGAGGCAAGAAGGCCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000099889:ENST00000263207:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.029 A=NA C2=0.429
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAATGTGAGCTCCGATGGTGC
R:
CTTCTTGCCTCCAAAGCAGCT
Band lengths:
283-654
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