HsaINT0012976 @ hg38
Intron Retention
Gene
ENSG00000099889 | ARVCF
Description
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:HGNC:728]
Coordinates
chr22:19977958-19979080:-
Coord C1 exon
chr22:19978897-19979080
Coord A exon
chr22:19978076-19978896
Coord C2 exon
chr22:19977958-19978075
Length
821 bp
Sequences
Splice sites
5' ss Seq
GAGGTGTGG
5' ss Score
4.48
3' ss Seq
GCCTGCTCTTGGCCACACAGGAA
3' ss Score
7.37
Exon sequences
Seq C1 exon
GCACCCTGTGGAACCTGTCATCCTATGAGCCCCTGAAGATGGTCATCATTGACCATGGCCTGCAGACGCTGACCCACGAGGTGATCGTGCCCCACTCAGGATGGGAGCGTGAGCCCAACGAGGACTCCAAGCCACGGGACGCCGAGTGGACAACTGTCTTCAAGAACACGTCGGGCTGCCTGAG
Seq A exon
GTGTGGACCAGACCTGGTGCTAAAGCCCACATGCACACCAGGCCCCGTCCTCGTGGTCCCAGATAGTGTGGAAGATGGCGGCGAGCTTAGGAGCGCCAGAGCTTAGGAGCTTCAGAGCTGTGGCACAAGTCCTGTGGATGAGAAGTGGGGCCTGATGGAGCTGTCCTCACCCCCAAGTGGTGTCCCAGTCTTCCCAGGGGCACCCTCTGGAGGGGTCTCTGTGGTACCGTAGCCCTGCCCAGCTCTCACCTACCTTCCCATCACTTGACAGCCAGAGGGGGAGCTGGGACCTTCCTGTTCATCTGCCTGGGAGGCTCATCCCAGCCACCTGTGACCTCTGCCCTTCCCCTCCTACCCCTGGGAGGCCCTGCTGACCCCACAGAGTCCTGGGTCCCCACAGTCCTGCTTGTCCATCAGGGTGTTCCCGCGCAGCCCTGCAGGCTCTTGACCTTGGGGTAAGGTGGGGCCCAGAGCTGCCATTGGGGTGGCGAGGGACCCAGAATTGCCCTTGCACAGGTTCAGGTCTCTCTGAGAGTGCACCTGTCCCTTTCCAGGTCAGCTGGGAGGCAGGGAAACCCTGTCTTTCCCTGCCCAGCTATCCCCAGCCAAGATAGTTGTCTGCCAGGGCTCCCCTCCTGAGGCCTGGGGGCAGTTAGCTTCTCCCCCTTCACTGAGCTCCAGACTGTGGGGTCCTTTCCCATTAGTGCTAGGAGGGCAGCAGCAGGGCCTATTTTGCAGATGAAGACAAGCCCACAAGGCCAGGGTGGAGCCAGGGAGTTTCTGGTAGCCAGGGGTCACCTGGCCTGCTCTTGGCCACACAG
Seq C2 exon
GAATGTGAGCTCCGATGGTGCTGAGGCCCGGCGGCGACTCCGGGAGTGTGAAGGGCTGGTGGACGCGCTCCTGCATGCCCTGCAGTCGGCTGTGGGCCGGAAGGACACTGACAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000099889:ENST00000263207:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.308 A=NA C2=0.029
Domain overlap (PFAM):
C1:
PF0051418=Arm=PD(16.7=11.3)
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:
GCACCCTGTGGAACCTGTCAT
R:
CTTGTTGTCAGTGTCCTTCCGG
Band lengths:
302-1123
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