HsaINT0012977 @ hg19
Intron Retention
Gene
ENSG00000099889 | ARVCF
Description
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:728]
Coordinates
chr22:19964938-19965598:-
Coord C1 exon
chr22:19965481-19965598
Coord A exon
chr22:19965110-19965480
Coord C2 exon
chr22:19964938-19965109
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-ARVCF:NM_001670:8
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.044 A=NA C2=0.448
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:
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
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)