HsaINT0039220 @ hg38
Intron Retention
Gene
ENSG00000197565 | COL4A6
Description
collagen type IV alpha 6 chain [Source:HGNC Symbol;Acc:HGNC:2208]
Coordinates
chrX:108211672-108214228:-
Coord C1 exon
chrX:108214112-108214228
Coord A exon
chrX:108211741-108214111
Coord C2 exon
chrX:108211672-108211740
Length
2371 bp
Sequences
Splice sites
5' ss Seq
CCCGTATGC
5' ss Score
1.37
3' ss Seq
TTTTAAACTATTTTACTCAGGGG
3' ss Score
4.75
Exon sequences
Seq C1 exon
GGCCACCCTGGACAACCAGGCCCCAGAGGCCCACCTGGTCTGGATGGCTGTAATGGAACTCAAGGAGCTGTTGGATTTCCAGGCCCTGATGGCTATCCTGGGCTTCTCGGACCACCC
Seq A exon
GTATGCTGCCAGATATTTGCATTTTATTTCAAATGGCTTTGCTTGTCTCTACGTGTGCCCTTTTTCTGCCTCTCTGGAAACCTCAAGATTTTGTGGGGCAGCCACTACACACCCTTGTCCAATGTAGGAGTCAATACTGGCAGCACCACAACAGTAAAAGTCTAAAGAAGAATACCAGTTGCAGTGGGGTGTGCACATGCTACACTGCTTAGGGTTGCCTTTTTTTTAATGCAGCTTGTGAAATTGGCAAGATTGTTAAAAGGCTGTAGTAAATTTCATGGCAAAATACACACTTGGGCTATTTGACATGGTCCCACATCAGACAATATTGAGGAATGTTTGGAAGACTTATATGGGATCATGGAAGCACTAACCAAAACCCAAAGGGGCTTGCAAGCTTGGTCTATACCAGTGGTTTTTAACCAGAGGTGATTTTTGCCACTCAGGGGACATTTGGCAATTACTATTGATATTTTGAGGTCTCACAATTGGTGGTGTGCTACTGGCACAAGACAGCCCCCTCCCCAACATCTAGAAATCATTTGGCTCAAAGTGTCAATAATGCTGAGGTTGAGAAACCCTACTCTATAGTAACAGAGTTTGTGGCTACACTCCCACATCATAACCCTTGGTTATGGTATTGATAAGGTATTTATTGGATTCCAGTGTCACCACTTTTATTTAATTCTATTCATCCAGATAGGGCTCAGATATTTTGATCTAAGGGATCTCTAGTAAATACAATGCCCTTCCAGGCTGATTTTACAAGTGGCTGGAAAGAGTAAAATAACACATTTCAGACTCATTGTCAACCTCCCTTGAAATAATCTAAACTCATGAGGGCACTGATCTGAGATATTTAACTAGAAATCACTCCATTCATGAGACATGTTTTATAGCTACATGAATTAATTGACACTTCATTGGAAGAGCAGCACCACCACCTTCAGTGACCAGGTTGGGGTGTGGGTATATGTGTGAGAAAATGAGATAGATGGACAAAGCACAAGCCCCAGATTGGCATATAGGACTTTGACACCTAAGGACCAAATCAATATGCCGGGGGGTGGGGAGGTAAGGAAAGATGTATTGCTAACATAGGATGAGATAAGTGGGTTACAAAGTTCTCCAAAGATTGCCATGGCAACCAGGTATAGAACAAAACATTTCCATGAAAATCCAGCAAAGCAAGGACATGCTACCCCCTAAAAGGAGAAAATAAATGTTGAGGTAATAAATACCCATTGACAAAGGACAAAGGAAAAAACCTAGTTCTGTCTCTTAACTTAACCTCAAGCCTAAATAGGAACTTGGGCATGTATTTTACTAAGTGGAGATGTATCCTTTGCTGAATACCAAACAGATCATTCAGTTGGCTTTTTTGAAGCTTCTTTCAAGACAGTAGTGGCCACAAGAATAAAGTGAAACAGGCAGTGTTAGGAAAAAAAGTGAGAAAAAAAAAACGGTTTCTGCTCCTGGGATCACGTTGTTGTTTTATGATACCAATAATCCCTGTGCTGAAGGAATCAATCATTCAATAAATGCTTCAGTCCACAAAGCTTAGCCCTACCCCACATACTAATCCTGACTTCCCCTTAGGTGTAGGGACGTTGATTATCCCCAGGTGTACAAACTCTAACAGATATTAGCCAGCATCTGCCAGTAAGACAGCAAAAAATCTAGTTGAAAGATTGGAATTGTGTACTTTGAACCATTTTTCATGTTAGCAGTGAGATACACCAGCCTCTTAGACAGACTTTGAATCTGAAGTTGTGTGGTAGAAGTACAGGATGAAGGTAGTTTTGTAGATATCTTTTAGACCAGAGGTCTACAAACTGGACCACATGGCCTTTGGCTTGTGGCCTGTTTTTTTTTTTTTTAAATAATAAAATAAAAAGAAAGAAAGAAGAAGAGTATAAAACAGAGTTTAGATATGACCCAAAAGGCCTAAATTATTTACTATCTGGTTCTTTTCATAAAATTTTACTAACCTCTGTCCTAGACAAAGGTTCTGTCAGTGACCTATACCTGTGAGGGGTGAAGCAGCGAACTCTCCATTACATGAGTTATTTGTGGTTGTTCAGACCAGTACTCTGAATAGATGTAAAGTATCTGACTTTAACACATTTCAGACCCATTCAAACCCTTTCCCTTTACAGACTTCTGGCTTGGGGATTGGGAGGGCATATAGCTCTGAATCAGAGCACCCGGTCAAGGAATGTGTTTTGCCCCTTAGTACAGCCAATTTTGCCATAGAAAAAGCCACATGGTTTCAGGCTCTTGCTGTCCCATCCTCTATCTGATCAGATAATGCAATTAAAAAGACTGTAAGTGTGTGTATTTCTTCAATTTTTTAAACTATTTTACTCAG
Seq C2 exon
GGGCTTCCTGGTCAGAAAGGATCAAAAGGTGACCCTGTCCTTGCTCCAGGTAGTTTCAAAGGAATGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197565:ENST00000372216:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=NA C2=0.990
Domain overlap (PFAM):
C1:
PF0139113=Collagen=FE(62.3=100)
A:
NA
C2:
PF0139113=Collagen=PD(19.7=52.2),PF0139113=Collagen=PU(11.9=30.4)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
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