HsaEX1004768 @ hg38
Exon Skipping
Gene
ENSG00000099889 | ARVCF
Description
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:HGNC:728]
Coordinates
chr22:19981933-19990812:-
Coord C1 exon
chr22:19990585-19990812
Coord A exon
chr22:19983673-19983819
Coord C2 exon
chr22:19981933-19982091
Length
147 bp
Sequences
Splice sites
3' ss Seq
AGTCTATTTCTTTTTCCCAGGGA
3' ss Score
7.67
5' ss Seq
TAGGTAAAT
5' ss Score
6.62
Exon sequences
Seq C1 exon
CTGGCGGGCGCTCTGGTCATGGAGGACTGCAATGTGCACTCGGCCGCCAGCATCCTGGCCTCGGTGAAGGAGCAGGAGGCCCGCTTCGAGAGGCTGACACGGGCACTGGAGCAGGAGCGGCGCCATGTTGCCCTACAGCTGGAGCGTGCCCAGCAGCCTGGCATGGTCAGTGGTGGCATGGGCAGTGGGCAGCCCCTGCCAATGGCCTGGCAACAGCTGGTCCTCCAG
Seq A exon
GGAACAGGTCCCCTTTTCCTAGCCAGGTCCACAGCAGGCATTCCACCTACATCTCAAGACTGAGGGCGAGATGAGGCCCAAAGCCTTCCTTGCCAGATTGCCTTCTCTGGGGGTGCTTGAAATCCCACTTGGACTGTGAAGTTCTAG
Seq C2 exon
GAGCAGAGCCCAGGCAGCCAGGCCTCACTGGCCACGATGCCGGAGGCACCTGATGTGCTGGAGGAGACCGTGACGGTGGAGGAGGACCCCGGCACACCCACTTCCCATGTGTCTATTGTCACATCCGAAGATGGCACAACCCGGCGCACCGAGACCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000099889_MULTIEX1-4/4=2-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.717 A=0.600 C2=1.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000263207fB9923
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATGTTGCCCTACAGCTGGAG
R:
GGGTTGTGCCATCTTCGGAT
Band lengths:
247-394
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains