HsaINT0039609 @ hg38
Intron Retention
Gene
ENSG00000206384 | COL6A6
Description
collagen type VI alpha 6 chain [Source:HGNC Symbol;Acc:HGNC:27023]
Coordinates
chr3:130658676-130662308:+
Coord C1 exon
chr3:130658676-130658772
Coord A exon
chr3:130658773-130661636
Coord C2 exon
chr3:130661637-130662308
Length
2864 bp
Sequences
Splice sites
5' ss Seq
ATGGTAAGA
5' ss Score
9.48
3' ss Seq
GAGTAACTTTTGGTTCACAGATG
3' ss Score
6.35
Exon sequences
Seq C1 exon
ATTGACGACACTGGCACATTTCAAGTAATAGTGGTTCCCTCCGGGGCCGACTACATACCAGCATTAGAGAGACTCCAGCGGTGCACTTTCTGCTATG
Seq A exon
GTAAGACCCACAGAGAGAAGGTAATTTGGTCAGGCCTATTAAGCATGATGAGTCACCACTGGCAGGGGCAACTGGAACTTGGCAGCAGGGATACTTATGGCCTTGGGAGGACCTCTCTGGGGTTCTGGGCCCACCCTGTCACACTTCATCTTCCACAGATGAATCCTCTCAGCTCAGCAAACATGGTCTCTTCCTATATATCCCAGCAAAAGAGTTGCATTCCAGGCCTTTCTACATAGTGCAGCTTACAGGAAACAGTAATGATTCTTAGAAAAACAGCCTATTTCATTGCCAAGTTTTTATGCTATAAAGTATATTTATGTGTTTTCTAAATCTCAAATGTTCACAGCCACAAAGAAATGCCTGAAAGCAATTCAGCACCCTCCTACCTGCTTAGGAATATTTTTTAGTACAGTCAAAGTGGAAAATAGCAGAAATTCATACATTTCTCATTGAAAAAAGGCTTCATAGACTCCCAAATATTAAGCATCAGAAAGATTTGCAGTGTTGATTTATTTGTAGTGTTTTATACGTAATGTATAGGTCTAACTAGAAAACTGGACTCTAATCTTCCATTTGAGTGTTCTAATAATTACAAAGACAGTGGAAGCCACTGGAATCATTGGTGGCTGTAATAGCTAAGAGATATAAAGCATTTTCTATAGGCCATGCACTGTTCTAATTCATGTAATATCAATGATGGTGATAATGACAGTTAATACTTAAACTATTGTGCTTATGTTCCAAGCACTGTTTTAATAACTTTAAATGAATTATGTCATTCAGTCTTTAAAATCACCCTAAAACATTTAAACTACTATTAGTTCCATTTTACAGAAGAGAAAAATAAAGCTTAGAGATAGTAATTTGCTCAGGGCTTCACAGCCATATTAAACCCAAGAAGGCTGACTCTAAACCGTCTGCAGTTTATGAAAAACAGGTCTCATTCTTCTGCTCCCTAAACCTCTCCATTTGAGCCTGTAGAAAATGCTTGATTTTTCTCCTTCACATGTATCAGTGAGATGCAAATGCCTGCCATATAAATGACCTAAATGAGGAAGGTAGTAATTCTGAGGGAGAAGTAGGGTTTCTGGTCTTCTAATAACCCCTCTTCTTTCTGTCTTCCCTCTGCTCCCCTCTATCAAATTTCCCTCTTTCCCTCTCCTTCTCTTGACTGCACAGAATTGGTTTAGGCGCTGGCAATCTTACTCAGAACAGTTAAAGTGCTTTACATACTGTGGGGAGATACATTCCACCCTATGTATTCTCAGTTGCTTTTTCAAACATGTCAGTTACAACAGTGTGATGGTATGTTGCATAGTCAGAAGTTGCACATGTGTGACTGGGGATAGATTTTGGCTTCATTTCTTGGCTTAAACCCTTGTTTTGTCTCTTAGGCATATAATAAAAGAGATTTTGGCTGTTGTTTCCTGCAATTAAAAATCCTACAAAACTGAGCAAATGGGCAGCCTGCTGTCCCTGATTTTAGAAACTGCTTTGCACACAGGTGACTGTTTTATCATCTGACCATTATACAGGACCATAAAATTTTAGTTAACTTCAGTAAGGGAACCATAACTTATCCAAAGTCACATCTTTATTGAGTCCATGAACAAGACTGTAGTGAGAATTTTCTTACATCTCCTAGGATCAGCACTCTGGTTATTAATCTTTCATCTAAGTTTTTATTTGTGGCCTCTGCCTATATATCCAGTACCAACTGTCCATACTCATGTTACTCCATTTTTCTTTCTTATCTTTGGTTATTAAAGAGGCTATTTTCATCCTCAACCATCAACTACTATTGAAAACCCAGGATTACAAAATGTCAGCCCTGAAAGGGGTCTGTAGGTGAGCCTGGTCCTACCACCTAATTTTACAGAACTATGCTGAACTGAAGCCCAGTGGTGACTTGGCTAGGGGCACACAGCTTGTTACTGAAACGAGACCAGAACCCAAGCATCCCAGCTCTCAGGCCAAGGGGCCTCCCCACTACTATACCACCTGGCCTCATCTCTAACAATAAAATACTGACTTCCTATATAGAAACTTCTAGAAATACTGGTGTGTCCTTAGGCAAAATTATTTTACTATCCTGGCCACAGTCTCTTCTGTAAAATTACAACATTAAATGACCTTTAAGAACCTTCCATTTCCATTTTTTTATTCCTCTGAATATTCATGGTGGTCATATTCAATAAAATCCCGTTTTTATTACTATGCATTCTTTTATTAAATGAGATATGCATATTTATAAAATGACCTCATTTAGGAAAGTCCATTAATATCTAATATTCATTTAACAAACATGTATTCAGTTTTCAACTAATGAGCACTATGGAAATGCAAAGATGAGCTTTGTCCTTAAGGATCACTCATAGGTAGACACTGAGTTATAAACTTATTTAAATTGAAATAAAAGATATATTACTTTGTTCACTTTTACTTTGTAAGCACTTCTTCATAGTAGAATATAAGCGTAGTGATAATATTGTCAATCTAGAGGGATGAGTCACTGTTATGTTGTGATACAGTATACCCTTGCATGCACGAGGCCAATCGTCCACTTCAAATGACATAAACTTGAGACACAGCCAAGATTAAACTTCTGTTGAAAACAGCCTAATCTTTAAAAGTCTGATAGCATTAGTAAATGGAGTCCAAGACACAAGCTGGGTATAAAATCTGTACTTTTGGGGGACAGATGCAAACCATGTACTAGGAAATCTTCCTGTTACTATTAAAGTATTTAGTCACTATTTTAACATCAAAGACTATGCAGTTTCCAAATGTCAAAATATTTGACATGCTATCTTCCCTTTTCTATTTCTACTTAGTAACCCAGAGTAACTTTTGGTTCACAG
Seq C2 exon
ATGTGTGCAAGCCAGATGCTTCTTGTGACCAAGCCAGACCACCCCCTGTGCAGTCTTACATGGATGCTGCTTTCCTTCTGGATGCCTCCCGGAACATGGGAAGTGCTGAATTTGAAGACATAAGAGCCTTCCTTGGAGCACTATTAGATCACTTTGAAATCACCCCAGAGCCGGAGACTTCTGTCACTGGAGACCGGGTGGCCCTATTGAGCCATGCTCCCCCCGACTTCCTACCCAACACTCAGAAGAGTCCAGTTAGAGCTGAGTTCAATCTTACCACCTACAGAAGTAAGCGCCTCATGAAGAGGCATGTGCACGAGTCAGTTAAACAACTAAATGGAGATGCTTTTATTGGTCATGCCTTACAGTGGACTCTGGACAATGTATTTTTAAGTACACCCAATCTGAGAAGAAACAAAGTCATATTTGTGATATCTGCTGGGGAAACCAGCCACTTAGATGGGGAAATCTTAAAGAAGGAATCCTTGCGAGCCAAATGTCAGGGATATGCCTTATTTGTGTTTTCCCTTGGCCCTATTTGGGATGACAAGGAACTGGAGGATCTCGCCAGCCACCCTTTGGATCACCACCTGGTCCAGCTTGGCCGAATTCATAAACCTGACCACAGTTATGGTGTGAAGTTTGTGAAGTCCTTTATAAACTCAATCAGGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000206384:ENST00000358511:33
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.018
Domain overlap (PFAM):
C1:
PF0009223=VWA=PD(4.3=21.2)
A:
NA
C2:
PF0009223=VWA=WD(100=80.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
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
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development