HsaINT0039583 @ hg38
Intron Retention
Gene
ENSG00000206384 | COL6A6
Description
collagen type VI alpha 6 chain [Source:HGNC Symbol;Acc:HGNC:27023]
Coordinates
chr3:130560334-130563664:+
Coord C1 exon
chr3:130560334-130560428
Coord A exon
chr3:130560429-130563067
Coord C2 exon
chr3:130563068-130563664
Length
2639 bp
Sequences
Splice sites
5' ss Seq
CCGGTAAGG
5' ss Score
10.19
3' ss Seq
ATATGTTTGTGGTTTTGCAGGCC
3' ss Score
9.11
Exon sequences
Seq C1 exon
ATTTGAAGTTGAAGATTTTTCAGGTCATAATATGATGTTGCTAATTTTGTTCCTCGTGATAATTTGTTCCCATATTTCTGTGAACCAAGATTCCG
Seq A exon
GTAAGGAAAAACTGGAAAGAATTCTTAATTTTGATTATAGAAAATAGATAATACATGAGTTTGACCTATTTAAAAGTTACAAGTTTTGTATCACTTTGTTTTGATTTTGATGGTAGTGAGATTAAGGGCGGTAAGTCAAATTCTTTGTAAGGTCACTCCATATTCCTTTGAAGATCATTTGTTTCTGGATCTTATTCCTTGTTAATAATAGATATGAGAGCTGTCATTTTGTCCTGCTTCAACCCCTTTTAGGTCTTCTGGGAGGTTGCATAAAAATTCTGTTAATATTAGGCTCAGGCCTGGAAAACTTGGAATGTCCCATCCTAATTCATTTGTGTCAAAAGGGTATCTTGGTTTAGTGTCCAGATTTGCTCCAGATTAAATTATTTGGCTGCTTATTGTGAAGAAAGTGCTTTTTCCCTGGAGAGAAAGCTTCATAGCACTGCCTTCTGTCTGTTGGCAATCTCTGTCCTGTGGACTTAAGACACTAGCACACCCTTAACCACCTCACCATCTCCTAAATAATTGGTTCTTGTCCAGAGCAACTTACATTGGCTTTTACAACTTCCTCGAGGACACTGACCTTGTAAGCAAGTTTTGTGAAGACATAAACCAGACTTTGCCCTGCAAACATCTTCCTTTGATGTATCTCTAAGCCTTGAGCTTCTCAAGTAGAAGCCATGATTTTTCCTCCATTGTTTCATGGTTCAGACGTAGTGATGGACCTTATCAGAACCTGAGTCCGCCTTATGTGCCACTCATCTACATTTCCTTTCTCCACAAAAGATGTAGGGCTTCATTCATGAATAGAAAGTCACTGGTGGTCACAAATCAAGCCACCCACGGCAGGGCTCCCCTGGCAGTCTTCACAGGGTTTCAGGCTTCTTTGGGAGGAAGGTGTTGATACACTCTCACTTATTTCTTCCCCTGAGATGCTGCTGGCTGTATAATCATGAAAAGAATCTCAGAGTGGTTAGATTTGGGTTATTTAAAAGACAAGAAATTATTTTACCCATTATGCCTCGATCAGATGGCCATAAAAGGAATGAAATAACACACAGGTCTGCCAAAGCTGGTTTCCCAGCCAGTGTAGAAAGGAAAAGATTGAAGTTATTCTAATTTGATTAGAACTTACCTAGTAACCATTTTAGATAATTGGAATCTCAGAGTGAGGAGGTACCTTAGATGTTTTCTAGTTGAATCTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAATCTACTTATTTTAAAGAAGAAAAAACTAAGGCCCAAGTGTATTGAATGTCTTGACAGAGCTCATAGAGTTAGCTGAAGGTAAAGTCAGGGTGTTCATGACTTGTTCCATTATGCTGTATTTCCTTAAACATACACCACACATATACTTCCCTCCCTACCCCAGACAAGAAATGGATCTTATGCTAAGGTAGAGAGAGCTCTGAGTTCAAACCAGCAGACCATTACTAAACAACAGTTAGTGTTTGAATCCAATGATTCTATATCATGTAAAAATGTAGTACCAGATAAGTAGTGTTGAATCTAACAATGAATGAAGCTTTAAAGGTTAAGCAAAGTATTACATTCCTATATAAAACTTATATTTTTAATGGAAACTAAAACTAGAATCCCTTTTCTAGCCCAAGATACATTGGTGCCATCACATTTTGCATGTGTGAGAATAAAATTCACCAATTATAATATAATGCTCATTCATGTAATTCATCAAAAATATTAAGATATTTAAAATAACCTTGAAAAAGATTGACTATTCCATATTTTTATGATTTATAGATTTTTTTAAACTTAATGTGACTGTTTGGAATGTACAACTTATATGGTTTTAAGTTAATCAGATAAACTGTTGTGTTGCTTAAATGAGAAAGGCCATCTTTCAGATTTTACCATTAAAGTGAATTTGATGGAGTTTGAGTTTCAATTAAAATTTTTATCTAGTTGACATAGTTGAAATCAAATTCCAAAAGCCAAAAAAACTACAAGAGGAAATTATCCACAAAAGGTATAAAACCCATGATTTTTTATTTCTCTGTTTATTTCTGTTTTATTTTTCCAGTCACTATTGTTAATCACTATTTCTAATTAACCAATTCCTTGCAAAAGTTATGTTTAATTTTGTGATAAGTTCAAATGAGAAGTTGTTTAAAAGAATCAGCCCAAGATACAGCTATTTCTTTTTCTTGAGAGAATGTGCAGTTGCAGGCTATTATTTTCGGTTTATTGGGAAGGTATTTTAAAAATAAAAAGGAAAGTACTTCCCCGCCATAGAGTTGGCATTAAATATGGCAGTAAATTTTTTAAAGTTTTTGGTTCGTTCATATGTTTGTGGTTTTGCAG
Seq C2 exon
GCCCTGAGTATGCAGATGTTGTGTTTTTGGTGGACAGCTCTGATCGCCTGGGATCCAAGTCCTTCCCATTTGTGAAAATGTTCATCACCAAAATGATCAGCAGTCTCCCCATAGAGGCCGACAAATACCGTGTGGCCCTGGCCCAGTACAGTGATAAACTTCACAGTGAATTCCACCTGAGCACCTTCAAAGGCAGGAGCCCCATGCTGAACCACCTAAGGAAGAACTTTGGATTCATTGGCGGGTCCCTGCAGATAGGAAAGGCTCTTCAGGAGGCTCACAGGACTTATTTCTCTGCACCCGCAAATGGGAGAGACAAGAAACAGTTTCCCCCAATTCTAGTGGTCCTGGCTTCATCTGAGTCTGAGGATAATGTGGAAGAGGCATCAAAGGCCCTGCGGAAAGACGGAGTGAAAATCATCTCTGTAGGGGTGCAGAAAGCTTCTGAGGAAAACCTGAAGGCCATGGCCACGTCTCAGTTTCATTTCAACCTTCGGACAGTCAGAGACCTCAGCATGTTTTCCCAAAACATGACACACATCATCAAGGATGTAATAAAGTACAAGGAGGGAGCAGTTGATGACATCTTTGTAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000206384:ENST00000358511:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.020
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0009223=VWA=WD(100=87.5)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
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
- Pre-implantation embryo development