HsaINT0012972 @ hg38
Intron Retention
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
chr22:19982092-19990584
Coord C2 exon
chr22:19981933-19982091
Length
8493 bp
Sequences
Splice sites
5' ss Seq
CAGGTAACA
5' ss Score
8.88
3' ss Seq
AATGTCCCTCCTTGCCCCAGGAG
3' ss Score
9.14
Exon sequences
Seq C1 exon
CTGGCGGGCGCTCTGGTCATGGAGGACTGCAATGTGCACTCGGCCGCCAGCATCCTGGCCTCGGTGAAGGAGCAGGAGGCCCGCTTCGAGAGGCTGACACGGGCACTGGAGCAGGAGCGGCGCCATGTTGCCCTACAGCTGGAGCGTGCCCAGCAGCCTGGCATGGTCAGTGGTGGCATGGGCAGTGGGCAGCCCCTGCCAATGGCCTGGCAACAGCTGGTCCTCCAG
Seq A exon
GTAACAGCCTAGTGACTTGGGAAGGGTGAAAATTGCCAAGTGGGAAAACAATCAGTGGGTCCTGGTGGACCACAAGCCAGCATGCGCTCGCTTATTGCAAGATTTGCTGGGGCTCCTGGGGAGGAAAGGAAAATGGGATCCCAGGTTGGGCTGGAAGTCCCACTTGGGTGTACTAGGCACCATGTGAAGAGTGGGCAGGACACAGCCCAACACTCAGAACAGCACCCTCCACTGAGCCCTCAGGGCCCAGGCAGCTGGATGGGGTCTGTTCTGGGCAGCTCTTTGGTCTGCCTAGAGACACTTTAGGGGTTTGCCTGCACCATGCCTAACCCTGCCACAGTGTTCATTGCATGCACTGGTGGGTCAGCCCCAGGAGGAGGCCCAGAGCTCTGCCTGCAGCTTAGAGGCTGACCTGGGAGCCTCATTTTCTCTGCTGGCCATTATCCTCAGACTGGGCTCCGGCCCCTACTCAGCCTCAGGAGGTATAGAGCCTTCTGTGTTCCATGGCCAGGCCCTAAGAACTCTAAAGTTGGGGTATGCAGTGAGCAGTTAGACCACTGGGACACCCCATTCCCAGCACCCCAGTGCTCTAACCTGTAGATGAAACAGCAAGAGCCCCTGGCTTGGGGTTAGGAGGCCGGAACAAGTACATGCAGGGAGACTTGGGATGTGGTGTGATTATCATGGTTCCTGTTACTGACTGAGGGCTAGCACAGTGGGGAGTCAGGGTGGAGCTGTCCCAGCAGCCACGGGGAAGGGGGCTCTCCTCACCACCCAGCTTAGAGGCTGGGGGGGTTGCCTCCTGCTGCGGCCTCTGGGTTCTTCACAGAGTGACCCTAGAGGGCTCTCCCTGCAGAGTCCTGTCTCCCTGGCTCAGCTCCCTGCCCCGCTAAACCCAGCAGCCAGACCTCCCCCCAGCATACTCCCAGCACCTGCACCTCCACCCGCCCTTCTTTGGTCCTGCTGGGCCCTGACTCTGGGGACCTGCGCCTGGCACACACATGCCAGGAGCTTGGGGCAGCCTGGCCCTTCTCATCTAGAGAGAAAGGGAGCAAACGCTGGTCTCTGTTGAGGCAGCCCCATGGGCTCTCCTCACCTGGCTGGGGCATGTGGGGCTCAGAACCAGCAGCCTGTGTCAGGCCGAGGGACCTGGGGTTGGTGACTACTCCTTGAGTCTTGGTGTCCAGACTTGGTGTCGGCCAGCAGGCGTCATGCTTCCTACGTCTGCTCATGAGACCCACATAGAAGGCCCAGCCCAGCACCAGTGCATGGTGAGAGTCAAATTAATGTCCCCAGAGGGTCCGAGACTCACTAGGGGGCCCTTTTTCATGGCCCCTGGTGCTCAGAGGCCTCTGGTGGGTCTCGGTGCTGGGGCCACTCTCACAGCCCTCAGACTTGAGATACTCCAAAATGTGAGGCCTCTACCCTCAAACTTGAGGCGGGGAAGCAGAACGCTGGGCCCAGCTGGGCCATATAGGGACAGTGGAAGCCAGTGACCCCGAGGCCGCCTCTCAGGCGCCAGTGTGCTCAGTCCAACCCTCCCAGACCGGAACTGTCCTCGGACAGGCAGTGTGGGAGGACCCAAGGCACCCCGGAGGGTTGATGCCCTGGTGGGAAGATGTTCCCACAGCCTGGAGCTACCCTGACCTCCTCAGGCAAAAGACTTCAAGACCTCAGGCTACTGCCCCTCCACCTACCACCCCTGCCCCTGAACTCTCCCCCCGACCCCCTACCCTTGATTTTCTCAGGCTGGGATTGAAGAGAGCATGTGTTGCCAGGGCTGCAGCTCAACTGGCTGGGCTGATGAGGATACTAGGGGAGGCAGGGCCTCCTTGGGCTGGCCAGGTTTCCCAGATTGGTTTCAGTAGGAAGTGCCTAGCGATCTACCTGCTGAGCCACAGGGTCAGAGCCCGGGCTTTGGGAAGCCAGGGCAATGGCAAGGCAGGTAGCTGGGGGCTGAGGCTGGGGAACCAGGCTAGGGGGAGTGCTGCTGCACTCACTGGGCTGCTCCAGGGTCCTGGCTACCTGCCCTTCATCTTCCAGCAGGAAGGGGCCCCTCCTCTAGACAGCCAGCTGAAACAGGGCTGACGCCCACCCAGTGGGGAGGGGTGCCATCAGGGAACTTGCCTTGGGCTCGTCTTAGGTGGATAGGTGGCTGGGGCACTAGCTGCTGGTGCAGTTGAGAAGATGGAGCCAGCTTAAAGATAAGATGCGGGCGCGTTTTTGGCGCAGTGTCTGGTCTTCTGCGCTCTGCTCCAGGGGTTCCAGGCAGGTTGGCCCTAGATGCAAGATACAGGGGTCCAGCCAGTGGTAGGGTAGCTCACCCCTCTGCAGGTGGGGGAACTGAGGCTCAGAGGGGCACATGGTGGGTACCTAGAATCTTGAGCATGCTAGCCGAGTGGCCTCTGTATATGGCGCTCAGGGCAGCAGGGAGTGGTCCCTGCGGAGGCTGTTTTCTGAGGGGTCTGCGGAGAAGCCAGTGGGAGGCCTGGGCCCGAGCCCTTTCTCTTGCCAGACCCACTGAGTCTCCCTGGGTTGGTCTCAGCTCATTTAATCTCAGAACCTGTTTCCCTGTTCGTGATGCTGGAGCCATTGGCTTGGCCTTTGTGGGGTTTGACATAAGAAGGTGGCTCCAGCCTGGCCCTTCCCCTCCCATTTTTCACTGCAGCAGAACTAGATTCCCTAGGGTGTGGCCCACATTGAGGCTGGCCTGGGGGAGCAGTGGGGGTGCATTCGGGGCTTCTGTGCCTCGATGGGGAGAACCCAAGATACAAAGTGGGGGTCCCCTGCAGGGCCCTTTTCCAGGTCCCCATCGAACTCTGTGGGGACAGTTCTTCGCAGGCCCATTCAGAGTGGCGGCTGGGCAGGAGGGTGAGGGGGGATCTGGGAGACTGGAGAGATCTCACAGAGCCGTGACTACTGTCTCATCGGCCCCCATTTCATGGCAGGTGAAACTGAGTCGCAGCCAGGTTTGTGCCAGTGAGGGAGGCCTTGTGCTCTGTGCATCGCAGCACGGGCACCTGCCCTGCCGGAACTGTTTCCCCCTTTGCAGGCGGACTGAAGTGTGGTCATAAACCGAGGCCAAACCGAGGCCTGGGAAGGACTTGGCCAAAGTCTTTCGGCGGGAAAGTGACACCCCTGCCGCAGGGAGGGGGAGGGAGCAGAAGTCCAGGCCGGCAGTGGGTGGGGGGAGGTGGTGGGAAGTGGGGGGACAGGGGGCGACCCGGGGCTGCAGGGCCCCGCCCCCTGTCTCTGGGGGGCGGGACCTCACATTGCCCGCCCCCCGCCCGCCACGCCCACCCCGGCCCCCGCCACGCCCCACCTGGGCGCGGCCCCGCCCGATTGGCTGCTCGCCGTGACCGCCGCCAGATCCGCCCCCGCGGGGAGCGAGTCCGCCGAGCCTGAGCCCGAGCGGCCGAGGCGCCGGAGCCGAGCCTGGTCCAGCCACCGCCTCCCCCGCTGCTGGCCAGCGCCCCCCGAGTCCCGGCCCGATGCCGGCCGAACTCAGACAGGTTGGAGGGAAGTTGGCTTGGGGGGACCCTGGCCCGGGGTCGGAGGCAGAGGGCGGGGCGTCGGCCTGCCCGGGAGGACCCGCTTTTGTTCCGCGGAGCCGCTGGCCCGAGGCAGCTATTGTCTTGCGCCCCTGGCTGGGCTGCGTCAGGCTGGGGCCAGGGCCGGGCGGGTGGCGGTGTGAGCGCGGTGCCCCCGGGTATGCAGGGCGGGCCGCAGGGTCTCTGGAGCCCATCCGCGGGGCCTGGGGGGGTCGGGACCCCTGGCAGTTTGACCCTCCTCTTGGCACCGGCCCGGACCGGATGGACGCTTCTTGGCCAGCGCCCAGGACAGGTGCCTGGGGACACGGGTGGAGAGCCAGGGCCTTCCTGAGCGGCTTCTGTCTGTGCAGGAAGGAGGCTGAAGTCTGAAGAGGGAAGCCCGGGTAGGCCTTCTGCTCCCTGAGAGGGTTCCTCCTCTCCCCTCCACACCCCCTACGCCGGCTCTGACTCCCGGGACCTGCAAAGGAGCTTCCGGAGCTTTAATGGAAGTCTTCTCTGCCTCCGAGGCGCACGTGATGGGAGGGATAGAGACAGGCCCTGCCCACTAATGGATGCTGGAGGAGATCTCTAAGGAAAACGGGATCCTCCCCCTCTCAGCATTGAGGTGGGGGGAGGCATAGGCAGTTTGTCCTCTGCTCAGAGCAGTGCTGGGTTCAGTAACAGGCAGGGAAACTGAGCAGAGGAGAGACCAGCCAAGACCCTCTGTGGTGGGAGGCAGGTCTCCCACACACCTGCTACCTGGGCAACTAGGCCCCTGCCTGTCCTACGGCCCTGGTGTGGCCCCCAGGGTCTGGCCCTCAGAGGTGGAGGGACCAGTTTTTGGGAAATCCATGGTCACAGTGTGTCTGATGACCCCAAGCTGAGCTTGGGGAAGCTGAGGTGGATGACAGTCAGCCCTGCTCTCCCACCCCAAGTTTGCTCCCCCAGCTTGGCTTTTTGGCATCTCTGCCTGGGGCCACGCCCTGGCAGGTGCACTGCTGTGTGGAGAAGTAAGCTCCAGGTCTTGGAGACTGGTCAGAGGCTGTGGCACCAAGGGAAAGGGCATTTTGTGGTGGCCAAGGGCTTGCTGCCTGGTGAGAGATGCCAGCCTGGCTTGTCCTGGACTCTACCTGGGAGGGCCATAATGGGGATGGAGAAGATTCATTCATTCATCCATCGGACAGCAGCCACCTCCTGCCCTCTGGGAGCCTGGCCTGCAGGTGTGGGATCCAGGTGTGCAATCTCACCTTAACTCATTCTCTGTGTGTGCTAGCCAGGCCTTGGACAGGGGAGGGGCCTGCCCCTGCAGTCTGTTCTTCAGGACACAGACCGTGGTGCATCTGTGAAGTCCGGTGGTTTGGGTAGATAAGTAATATGGGACCAGGGCCCAGCCACCTGTGCCCCAGCATCCCTCTGTGTGTTGGTCCAATCTTGCTTTTCTGCTCCCTGTGTTCCTTGCATTTTGCCACAAAAGTGAGACTGATGCTACCCAGCACGTCCCACGACCCCAGCCCCCTCTGTCCTTCTCACCTCCTTGTGAAGAAGCTGAGCCGAAGGTGCGTGATGGGGCCCAGAGCCCCTATGCTGGGCTCAGCCCTGTGTTCCCGGGACCCTCTTGTGAGCAGGGGTAGGTGGTCTACCTCCCTGGTCACTCTGGCCCCTCCCACAAGCCCAAGGGAGCTCATGGGAAACCCCAGGCCTGGGCAGCAGCCTGTTTCTGGGCCAGTCCTGGGGGCCCCAGACCTGGTGCACCAGAGATTGAAGAGCCAAGGGAGGGATGAGTGCTGGGAGGCCGGGCGGGGTGCAAGAGGAGCAAGGATGGGGCCCCAGCTGGGGAGGGGGTGATGAGAGACGACTGACAGGATGCAGCATGTGGGATTGGGCTGGAGGTGGGGTGTTCAGGGTAGAGCCCATGTCTAGGGTACAGAGGGGAGCAGCCCAGAGTTGGGTCTGAGGCAGAGGCTGTGTGGGGCTGCAGGGCCAGGGTCCCTGAGAGTGGGCCAGCCTGGGCAGGTGCACGTCAGACATGGACACTGGGGCCAGACAGGGATCCAGGGACTGCAGCCAACTCCTGTTGAGAGTCAGCCCACCATTCCACAGCCCCACCCTAAAGATGTTGCAGAGAGCTGAGCCACCAGCTGGCTATGGGCCTCTCACTACTCTACACCTCAGTTTCTCCATCTGCCAGCCAGCTCTGAGACTCCCAGAGTGGATGCTGGGCAGATGATTGGCAGAGTTGGTGGCCCCTGTCCCTGTGTGTTGAGACTCTGTGAGGCCCTGCATGGATAAGGGTCTCCGATACACGGTGGAGGACGGGAGGATGTGTGCTCACGAGTGTGCCTCTGGGAACAGTGGGCGCCGTGCCCTTGGGGTGCTGTTAGAGCACACGGGTTGATGTGCTCGGCCTGTGCCGGGCTGGGTACTTGCACACGTGTATGTACATGCATGTGTCCCTGTCTGAGGGGTCATGTATATGCATGTGTGTGTGCCTGGGCATGTGTAGCAGGGGCCGGGCTTTCCTGTGATCACTGGCTGACTCATGCACCTGCCACCCGGGTGAAGTCATCCCTCGTTTTTAGCTCCCTGAGGTCATTTGCCAGCAGGGACTCTTGGGGCCTCTGGATCCTACTGCGGGGCTGCTAGGCCGGGGCTGATGGGTGGTGCCGCAGGGTTGCCAGGTCTTGCTGCGGGGGCGTGGCTCTCCTGGACCACCCCAGCTCTGCCTGTCAGACCCTCACCACAGCCTTGGTGGGAGGGATAAGCTGGGCCACAGAGTGGCATCGGGGTCCTGAGATGTCCTCCCCTTTTCCTCTCCCGCTTACCCCCACTGCCTAGCTAGGGAAGAGGGGGTTTTTCTCTGAGTTTTTAATAGATGTAAATATATACATATATGAGGGGCTACATCCCACTGGCAGAGTCCTGGGTAACGTTTCCTCAGTCTTGCTTTATACCCTCCTCACTCTGTCGCCAGAACTGCAGCCCCTCAGTGCCTGGGCCCCTGCTTGAACTCAGATGAGCCCCGCCCAGGGCCCAGCAGAGAGAGCTCAGGGCCTGACACACATTTGCCAGATACAGATGGGGCAGCCCAGCCCCAGCAGTGATGGGCCACACAAGCCTTCTCCTGCTTCAGAGCAGTCCCAGCTCCCCAGTGCCTTTGGAGAAGAGCCCAGCCTGCCCTGCCTGGCAGCGTGCCAGTTGTCCCCACTCTAGGCCTCAGTCTATTTCTTTTTCCCAGGGAACAGGTCCCCTTTTCCTAGCCAGGTCCACAGCAGGCATTCCACCTACATCTCAAGACTGAGGGCGAGATGAGGCCCAAAGCCTTCCTTGCCAGATTGCCTTCTCTGGGGGTGCTTGAAATCCCACTTGGACTGTGAAGTTCTAGGTAAATCCTCTTCCCCCTGCCAGGCCTCAGTTTCCCCATCTATAAAGTTATCTGTCATCCTCCAAGACCCTGCCTGTGGGAGAGGGGGAGGTGCCTTCTGTGGCCACTTCTTTCCTCTGTCAGCCTGAGGGATACACCTGTCCTAACATGTTGGTGCAGGCCCCTTCCTGGACACCTGCACTGCATGCATTTGGGGGTCAAGTATTCCCCCAGGATAGGACCCTGACCTGGGGAGGCTTCCCAGCCCACGAGCCTTGGCAGGCAGGTCCTGAGGGCAGCGCTGAGCATCTAACCTGGCTCACCTCCCAGGCCCAAGAATGGGCAGAGTCTGCCTCTGGAGCCTGGCAGAGCTTAGTGTCTGTGCAGGCCCCAGGGGGCCCAGGCAAGGGACCCATTGTGCAGGGACCAGGGGCCTGGGCCACAAAGCAGGACCTGTCCTCCTGCTGACCCTGCCCTGGCTGCCTGGGAATGTGCTCCGCCTGACCCACCCACCAGGGCTTGGGTTTCAGCTCCTGCCCATCCTGGCTAGATGCCGATCCCCGGATGTTGGTGCCATGTGGCCCTGGGGCCAGGCACCTGTGCAGTCAGAGGCCCGGGGCAGGCTGTGAGTCTTAGGTCCTCAAGCCACTCAGCGCGGCAGGGGTTGGGCCTGGCTCTGATGTGGGCCAGCCTATCCTCTTTGAGCCTCAGTTTCCCCACTGGCAAGTCCAGTCAGTAGGCATGTGGATAGAAAAGTCTCAGTCCAGAGTTGTCTTGCCTAGAATTCCAGTGTCGTCACCCCATGCAGAATGGTGGCAAGGGCACCCATAGGCTCAAATCTACTGTGTCTGGTCTCTGATATGATGCCCAGAGTCTCAGTCACTGGGGGCGCCAGCCACTGGCCCGAGGTAGGGCAAACCTGTGCCTACACAACACTCAAGAATGTCTGGGCTGGAAGGAATAAGGACATACTGGTGCTGCAGGTGCATGGGGTGTTCTGGGAACTGCGTATTTCTGTCCCTTGAGGGCGTCTGGCTGGCGTTGGTGGCGGGAACCTTAGTGTGGCCACAGGAGTCAGTAGGCAGTGCTGAAACAGCCCCCACAAGGCTTCTATACTCAAGGTGTCTGGGGCAGGTGAGGGAGGAGGCCCCAGGACACCATGATGTCCCAGCTAGGGGTGGTGGTTGACATCAGGAAGGCATGCTGCAGGTCTCACTGGCACCTCCTGGGGCCTGGAGGAGCCTGTGGCAGCCAGGCCATGCAGCTTGGGGAGGGCCCTGAAGACTTCACCCCCCAGGGTCTATGTCCTTATCTGCCAACTCAGCCTGAGGAGACCTGAGATGGGGGTCCAGCCCCAGGGTCCCCCCAGGATGGGGTGCCGGGGCAGGGTTAGCACCTCGATGTTCAGAGGGCAAGAACTTATTGCTGTCCTTGTCAGCTTGGGCCGAAACAGGCCTTGGGGTGGGTGGGTTCAGGACCAGGAGGAAGGCACCCTGGTGTGCTGGCCAGCATGAGCTGAGGCAGAGCTGCTGTGTGTGGAGACCTGCACTCCAGGGGTGACTGAGCAGCAGGCCTGCCCACCAATGTCCCTCCTTGCCCCAG
Seq C2 exon
GAGCAGAGCCCAGGCAGCCAGGCCTCACTGGCCACGATGCCGGAGGCACCTGATGTGCTGGAGGAGACCGTGACGGTGGAGGAGGACCCCGGCACACCCACTTCCCATGTGTCTATTGTCACATCCGAAGATGGCACAACCCGGCGCACCGAGACCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000099889:ENST00000263207:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.717 A=NA C2=1.000
Domain overlap (PFAM):
C1:
NO
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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