HsaINT0012970 @ hg19
Intron Retention
Gene
ENSG00000099889 | ARVCF
Description
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:728]
Coordinates
chr22:19957402-19958858:-
Coord C1 exon
chr22:19958739-19958858
Coord A exon
chr22:19958267-19958738
Coord C2 exon
chr22:19957402-19958266
Length
472 bp
Sequences
Splice sites
5' ss Seq
CTGGTACGT
5' ss Score
9.57
3' ss Seq
CATCCCCTTTCCCTCTGCAGGGC
3' ss Score
12.98
Exon sequences
Seq C1 exon
CTCGACCCCAGCAGGAAGGCCCCTCCCCCCGGGCCCAGCAGGCCCGCGGTCAGGCTGGTGGACGCCGTAGGGGACGCTAAGCCTCAGCCCGTTGATTCCTGGGTCTAGCTTGCATGCCTG
Seq A exon
GTACGTTCTCTCATCTGGTTGTTCGTCCACCTGTTCCTGCCCTCTGGGCCAGGGCTTCTTGTTAGTCTCCGCTGCCTGCACGCTCTGCTCTTCCCGCACGTTCCCCGCAGGACTTTGGCCTCCAGTCCAGCAGCCCAGTGGCCCATTCCCGGAAAGACCAGGCAGAGGTCAGAGAGGGAGGGTGCTCCCTGGGCCCACAGCCCTGTCCCAGGCACTGTGGGATCAGGGGCCTGAGGAAATGGGACCAGAGTAGGGATGGGCACCATACCCTCCAACGCCCTTCGGGGACCAGCAAGTCAGGATCAGCCCTGGTGCCAAGACCCTTGGGGTCAGCCCACACCACCCAGGGCAGATGCTTCTATCCACATCTCCATCCATGTAGCCTGTGGAGTTGGCTGCCCTGCCCTGAGGTTACACGTGGTCCTGTGCCACTCAGTGGCTGCAGCGTCCACCATCCCCTTTCCCTCTGCAG
Seq C2 exon
GGCCCAGGCCCAGCCTCTTGTTCTTAGGGCTTGGATCGTGGAAGAAGGGCCACCCTGAGCAGATCGTGCCGTGGAGCTTGGAGCCCCCTGGCGGCAGGGGTTGGCAGCGCCTCGCCCCAGCCAAGCCTGACTTTGGGGACACCCTCCTGCCCCCCCACCCCACTCCCCCCATCCTACCTAACTCCCTAGGCCTGAGTTAGCTGTTTACTGACATGGTGCTGTGTGTGAGCGAGTGACAGAAGGCCCGAGGAGGCCGACTGGGCTGCTGGGGCAGGGCCCAGGGAGGTGGCAGGGAAGGGTGCCTGGCTGGGCTTTGGGGCTGGTGGGATAGGAGGGTGCCCCTGGGAACACAGTGCCCCAGTGGTGCGGGCCAGGTCTGGCGCCAGGGGCAGGCAGCTAGGCAGGGAGGGGGCTGGGAAAGAACTTGGACTTCTAAAGGCGGAGGGTCTCCCTGGGCACCCTGCAGGCAGGCAGACCACGGTGTGGGGGGTGCCCCACAAGGCCCAGCCCTGGGCAAGGAAGCTTTGGAAGCAGCAAGGTGGGGGTCAGGCTACAGGTGCCCCACCTCCCCAGAGCCCTGCAGTCACGTGAGGCCCCTGTGCAGTAGAGAGCCTTTCTCCAGCCCATGCTGGCTGGGGCCGGGGCTGCCGCATCTGCCTGGAGCCTGGGCAGCACCTCCGGGACTGACCTTCGGCAGTGGCTGGGGGACTGCTTTCAGTGCCTGCTGTTCGTGACTCAGAAACAGAAGAAAAACACTGAGAAAAAGCATTAAAAATAAGCCAAAATAAGACTATTGGTAAACACCTAAATTTTTGTAAGAAAATTTAAAAATTAAAGCAGCAAAGGAACTTTTTGCTTTCTGCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000099889-ARVCF:NM_001670:19
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
3' UTR
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=NA C2=1.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NA
Main Inclusion Isoform:
NA
Main Skipping 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:
TTCCTGGGTCTAGCTTGCATG
R:
CCTATCCCACCAGCCCCAAAG
Band lengths:
357-829
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)