HsaINT0012969 @ hg38
Intron Retention
Gene
ENSG00000099889 | ARVCF
Description
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:HGNC:728]
Coordinates
chr22:19971216-19971971:-
Coord C1 exon
chr22:19971886-19971971
Coord A exon
chr22:19971336-19971885
Coord C2 exon
chr22:19971216-19971335
Length
550 bp
Sequences
Splice sites
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
3' ss Seq
TGCCCACCCGTGCGCTGCAGCTC
3' ss Score
6.37
Exon sequences
Seq C1 exon
ACGGATACTCCACGGTGGACCGGAGGGAGCGGAGGCCACGGGGCGCCAGCTCTGCAGGAGAGGCCTCTGAGAAGGAACCCTTGAAA
Seq A exon
GTAAGTGGTCATGTGGCTGTGGGCAGGTCCCCGGTGAGGCCCCGTGTCTAGGGGTTGCTGGAGAGCAGCCTAGGCCATGCTGGGTCTGGTCTGGGCCCTGGGGTACAGCTGGGTTGTGGGGCCAAGCCCAGGAAGCAGCCCCTTCACGCCAGTCAGTCTGTGGGTACTGACAAGTTTGCAGCTCCCACCCACTGGGGACAACACTGCCCGGCCACACCCTGCATGGGCCAGAGCCTGTGAGCTAGTGTGTGTGCACCCTTCTGTGCATGTGCGTGTGAGAGCCCACCAGGGTCCACCAGCGATGGCAGGACCTGCTGCCTGCTGTGTGCCAATCCCCTGGCTTCCTGTGCAGGCCTGTGTGTGTGCACGTGCCCGCCCTGGGCCCGTGTGAGCCACACGTTTCCGGCTCCCTGCGCCCTTGGTGCTACCTGTGCTGTCCTGGCAGGCCAACCCTTACATCGCCAGCCTCGGCCCTGCCCCTGCCCTGTCCCCCCAGGAGCTCTAACTAACCTGCTCTATTGTGCCTCTAATGCCCACCCGTGCGCTGCAG
Seq C2 exon
CTCGACCCCAGCAGGAAGGCCCCTCCCCCCGGGCCCAGCAGGCCCGCGGTCAGGCTGGTGGACGCCGTAGGGGACGCTAAGCCTCAGCCCGTTGATTCCTGGGTCTAGCTTGCATGCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000099889:ENST00000263207:18
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=NA C2=1.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACGGATACTCCACGGTGGAC
R:
CAGGCATGCAAGCTAGACCC
Band lengths:
206-756
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