HsaINT0012969 @ hg19
Intron Retention
Gene
ENSG00000099889 | ARVCF
Description
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:728]
Coordinates
chr22:19958739-19959494:-
Coord C1 exon
chr22:19959409-19959494
Coord A exon
chr22:19958859-19959408
Coord C2 exon
chr22:19958739-19958858
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-ARVCF:NM_001670:18
Average complexity
IR-S
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
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)