HsaINT0181332 @ hg19
Intron Retention
Gene
ENSG00000110799 | VWF
Description
von Willebrand factor [Source:HGNC Symbol;Acc:12726]
Coordinates
chr12:6174303-6180509:-
Coord C1 exon
chr12:6180463-6180509
Coord A exon
chr12:6174440-6180462
Coord C2 exon
chr12:6174303-6174439
Length
6023 bp
Sequences
Splice sites
5' ss Seq
CAGGTAGGC
5' ss Score
9.88
3' ss Seq
CTTCCTCTGTGTCTCTCCAGGGG
3' ss Score
12.97
Exon sequences
Seq C1 exon
CATTTGCCGAAACAGCCAGTGGATCTGCAGCAATGAAGAATGTCCAG
Seq A exon
GTAGGCGACCTGCCGCTCATTCTCTTCCTCCTTCCCTGAATCGGGGAGGCGTCTCCTCCTCTCTTACCAGACAGGGAGGGCCACAACTCAAGGCAGCGAGAAGTTGCCCTCTCTGCACAGGTTGGCTGCAACCACGTGACCCCAGCTCTGGTTTCAGGTACCAGCTATGCTAACCCATTCACAGGCCAGAGGTGGGAGCCCTGCAACAGCTGAAAGCGGAGAATGCACCTGCGTTCAGATGTTATTGTCTGTCCTTATTACCTGTTTGCTGAAAGGATTAAGGTTGATGAGCTGTAAGGCCTGTATGGTCATGATTGACTAAACAAAGAGGATACACATTCTTTGGAAAATTAAGAGGTAGAAGGGCCTGGTAATTCTTTAGGCTTGAAGGGACAGTTCTAATGGAACTTTCCAGAATGCCTAATATGAAGACCATGGCGTGGTCCAAGAGCTCGGAAAACCAGGTCACCAAATGATTCCTCCCATCCTGTCCCTGCCCTGGAAAATCTGCTTAGGAAAAATTATTGAGCAATCTCTGCCATTTGCTTTCTCCTCTGTTTGGCCCCAACTCTATTCTATTTACTGCAAACCTTGCCCATTCAAAGCTCCCTTCTGCCCCACCTTCCAATGACCTCAGACCTTGCCCTCTGTGCTCACTCACGTGGTGTTTTCTATGTGCTGGCCACTGTGCTAAACACTTTCCGGTTACAACCTGTGAGGCAGGTGCAATTTATTCTCATTTTAGGAAAGCAGAAACAGACCTAGAGAGGTTAAATGACTTGCCCAAAGTCACACAGCTGCTACGAGGCAGAGCCAGGGCTTGAACTCACAACTGCCTGACTTCTTACTTTTTCCCTTCCCTTTCTTCTCCTTCCCAGTACTAACCTTTGGTGGCCTGAAGTGGGTTGAGCTTGGATACCTGGGACTGTATTTAGGGTCTGTGAGTTAAAGACTTTAGGATGACTCAGGACCTCATCCAGTGTCCTCTACACTGGGAAAATTCTGGAACTAGATGTGGGCTAGATCAGTTAGTCTTGCAAAGAGATGGTCACCCAGCCAGGTTATCTTTTGTGTAACCCTTAAAGAAGGCACGAAGGAGAAAAGATTGCTCTTGAAAGGGATATCTGTGCTCCACTGAACGTAATTACACCATGTCCAAGACTAAAGGAGCTCTTTGGAAGACATATGAGTTGCTGCAATTAACCTGTGAAAACACTTTTAACATTTAAATAATAAGCACTCATTGTATGAGATCTGTGAGCCACAGTGGATGGAATTAGGAATTCAGTTTATTGTGTGTGTTTTTTTAGACGTTTGTAACCACCAGATTAGGAAGTTTTAACAAGTACTTACTATAGGGTGAATCTTCCGTCCATCATCCTTCCAACTGTCCATTCATCCAAGTACTATTTGAACACCAACTATGTACATGATGGACTGTTTTCTGGGGCAGACAATACAGTCCTCTGGTCTTCAATTCAAAATCTAGAAGATGACTTTGCTGAGGATGTAAGACATTCTCTTGATGTCTTGATGAAAAGATAAACAGTGTCAATTCTGTCTACTAAGTGGTTTGATATTTTGCCAACAAAACCACTACGCTCTTCTCTGCATTCTCAAAGCCCTGGCTCTGACCATCTTTTTCTAGTTTGGGAGTTTTGTTGATCATCGCCTCCCGGTCCATTTGCACCCACGCACACAAGCATATTTCCACACCCTGCCATGACTCAGCAGGCAGTGGGGCTGTCTGATGCTCCCAGTGTGATGACTGCAGATAGAGCTTCTGATGGGAAGAATAGGCGGTATGGTTCTGGAGGGGATATGCTTGGCTCTGCTTGTAAAGTGAGGAGCAGGCCGGAGCTTCTCTGCAGCCCCTGGAGGAGGATTAGAATGACATCAGCCATGTGAGAAATGGTAGGAGCCAACCCGGGAGGCAGTTTTAGGTGGCATCAAGGGCTCTGGGCTCTGCAGCTGGACAGACCTGCCCGTATTCAGATCCCTGTTCAGTTTCTTTGGGAACTTGGATGAGTTGAACTTCTCTATGCTTCAGTTTCCTCATCTGTAAACTGGGGATAATAATGAGCACTTCATAGGAGCAATCAATGAGATGGTTTCCATGGAGCACTTGGAAATGTATCTTATGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCTTTTTGGGAGGCTCAGTGGGCAGAGCGCTTGAGCCCAGGGGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCATGGCTACAAAAAATACAAACATTAGCCAGGCATAGTGGTGTGTGCCTGTAGTCCCAGGTACTTGGGAGGCTGAGATGGGGGGATCGCTTGAGCCTGGGAGATTAAGGCTGCAGTGAGCTGTGATGGCATCACTGCACTCCAGCCTGCTGGGTGACAGAGATCCTATCACACACACATACACACACACACACACACACACACACACACACGCAAAAAAAAAAAAAAAAGGAAGAAAAAGAAAAAAAAATGCATCTTGGGCCAGGCGCGGCAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAATGGTGAAACCCTGTCTATACTAAAAACAAAAACAAAAACAAAAAACCCACAGAAATTAGCTGGGCATGGTGGCACATGCCTGTAATCTCAGCTACTCGGGAAGCTGAGGCAGGAGAATTGTGAGAGCCCCGGAGATAGAGTCTTCAGTGAGCCGAGATGGCGCCACTGCACTCCACGCCGGGCAACAGAGCGAGACTGTCTCAGGAAAAAAAAAAAGAAATGCATCTTGCACATTTGGTAGAGATTATGTTGCAGGCTTTGGTGACAATTTGCATCTGGTGGAAGTCTGAGTTGCTTTGCTAAAGGCCTGTGGGTTGGGCATTTCTGCAGGGAAGGCTTTGGGAGGTAGAGGGTTGTGGGGCTGGGGAAACAAATGGTCTGGAGCAGGGCAGCCGCGTCCAGGGCTCACTACTGCAAACCAAAGGGTTTGTTTAGAAGAGGTAATGTGCTTCCATTAGGTGAGAGGTTCCGTTTTGTTTTTTTTCATGAGGCAGGATCTTTATTCACATAGAAATGGATCTGCTTTAACTTCTGGATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCAGTCGCCCAGGCTGGGGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGGGTGCTCCGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCATGACGGCCCGGCCTGGATGCTCTTTTTTTTTTAAATGCAGTTTTAGGAATCACCTGCCTTTCATTCATTCCCCAAACTTCCAGTGCCCATCTCCATCTAGTGGTGGGCCCGCTGTTCGTCAGGAGCTGCCTGTTGCTGACTGATGGGGAATATCCTAGTGTCCCATCCTGGGTGGAGGATGGGTGAGCGTGTTCGCATGGCCCATAGTTCTGGCTGACGTTCTAGCTCCCGTGGCTAACGGCTACCTGGCAGCTCACCCACCCATTTTCCTGTGTTTGTGGCTCTGTTGCTCAGTTGTACCGAGGAGATAAGCTCATATAATATTTAGACTTCTGATTTGCGAGAAACTTGGGAACACAAGTCAGTGAAGGTCAGAGAAGGAAATCAGATGAGACGATTAGATGCTGGCCCTGAAAGTTTTCCTTTCGAATATTTGCACATTTCTCGTTGACCCTTCTTTTCCTGGGTATTGTTAAAGAAGACAGAAGTCCATTTTCTTGCTTAGATAAGAGTGCTCTGAGAAAACACAGAAAGGCAGGGGGAAGAATTCCCACCCATTTTTACTGCCCTGGGGTCAAGACATTTGACACAAATGACCATATTACTGTGTTTGTAGAATGATGATAATTTCTGAAAAATGGTCAGTTCAAAAAGGCTTTCCTGAGACCTCACTGGACTTGAAATTACAGCACATCCAGAATGGGCTGGGACGATCCTGGCCCCTATCTTGTGGCCTGCTCTGTCCTCCACGAACAGTCACTCCTCACTCCCGCTCTTCTAGAGGGGGCAGCGGAGAAGGTGGGCCATGCTGATGGGAGTGATCTGGGGCCTTTCCACTTTCTCCTAATTTCCTCTGGGCTGGATGTGCCCTCCTGACCCATGCTGTCCTGGAAGGGATCCACTGTCCTGGGGACCAGGCAGAGGGATGTGTACATCCCTGAGGCACCTCATCCTTAATCCTGCCTTCATACACATCTCAAAGGCAGGCCCACACCTGGGTCCAGTACTGCACAGTCTAGCCTGGCCCCTGGCTGGGCCTGTCAGGGCACATGCGAGCATGAAGTGCCAGACAGTGAGGGCCTGTGGAGCTTGTCCTTGACAAGCTAGAATCTCTCTGTGCCTTTTGGGGACCCCTTGGCTGTGTGACAGGGCTAGCATTAGCCCCTGGAGCTGGGCCCACATAGGATGGTCTGTAGGACCCTCTTACATTTGTCTTTCCAACGTTGGTCTAGCATCTGTTCCCCAAAGGGGGAACTTCAGGTGGAGGCTGAGGTAGCGCTGTAGACAGCCAAGCTTCCGCTGTTTGGAGGGTCTCAGGGGAAGCCCTGTGCACTCTATGTGTCCTCATCTTTGCTTTGATCCTTAGAGAAAGGAACTCACACATGCACCGTAGAGTGACTGGGTGGGAAAAGTCTTCCTCCTTCACCAAATGGCAATGGTGTCTCTCTCTATATATATTTCTTTTTCTGTAGAGTAGATAGCAAAGATGAGAGCAGGTGGAGGAAATATATAGGGCAGGTTGGGAAGGGATCCAGATGCCCTTTTCAGCTTTGATGGGTCCATGTTTGGCCCTGAAGATGGGATTGCCTCAAGCCAGGCAGGTTGATGGAGAATCACTGGAGACATTGGCAGAGGCCTCCCCCTGCCAGGACACCTTCCAGGATGTGTGATCTCAGTTTGGAGGTGCATTGGGCCACAAGTATGGGGCCTAGGCTGGGGCGTGGGGGAGATGGTGTGGGAATTAGGGTGGGGACAAGCTGAGGGCTTTGGGTTGCAGGGTGATGAAGGGGAGTCCTAGTCCCCACCCACAGATGTGTCAGCCTGGGCTGGGAAGCTGGCGCTGCCGAGGTCAGCACTGCCTGGGTGGTGGTGAGATCATGGGCAGATGGCCTCCTGGTTCCCCATTGGCCCTGGCTGGAGTCACAGCGTGGGCTTGCCCCTCTGAGGACGCAGAAAGCAATGGCCTTAGAGTTGCCCCTCTGCTGGTGAGGAGGATGGAGTCCCCATTTTCACTGCTGAGCTCCAAGACTGTCCTGCCTCACCCTCCCACCTCATCCTGCCTCTGGGCTGCCTACTCTGCCCCCTGGCCTCCAGGGACTCTCCAGGGGTGACACTGTTTCCCAGAGCCTCTCCACACTCAGGTTCAGAGAACCCTGTGCTATTGGGCAGCCTCCCCCTGGCCAGGCATTCCGCTGGCACCAGTCTGAGGCTGGTGTGGCCCTGATGCCAGCAGGTAGCGTGGGACATGGCAGTGAGCTGTGAGGGAGGAGGGGAGGCTGCAGGGAGCCTGGAAGCAGGAGCGTGGGTTCCTGCGTGGTTCCACCACTGACTGAGTGTGGCTCTGTCACCTTCCTTAGTTGCCCCATCTGTAAAATGAGGCCTTGACCTGAATGACCCAGCTCTGACATCTTGCAGTTTTAGGAGCAGGAACCGAATTTTCTCGTAGAACTTGTTTTTAGACTGGTTTGGGCAAAGGACGTCCATGCAGTTTTGGGGAAGGGCACCCTGCTTGCATATGCATTCCACCTTGGCCACCCCAGGGGAAGTGCCCTCACCTCCCATTCTTCTCCCTTCCTCTGTGTCTCTCCAG
Seq C2 exon
GGGAGTGCCTTGTCACAGGTCAATCACACTTCAAGAGCTTTGACAACAGATACTTCACCTTCAGTGGGATCTGCCAGTACCTGCTGGCCCGGGATTGCCAGGACCACTCCTTCTCCATTGTCATTGAGACTGTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000110799-VWF:NM_000552:10
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0009313=VWC=FE(30.2=100),PF053758=Pacifastin_I=FE(50.0=100)
A:
NA
C2:
PF0009313=VWC=PD(30.2=34.8),PF053758=Pacifastin_I=PD(9.4=6.5),PF0009420=VWD=PU(27.9=93.5)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
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
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)