Special

HsaINT0039223 @ hg38

Intron Retention

Gene
ENSG00000197565 | COL4A6
Description
collagen type IV alpha 6 chain [Source:HGNC Symbol;Acc:HGNC:2208]
Coordinates
chrX:108205660-108206580:-
Coord C1 exon
chrX:108206518-108206580
Coord A exon
chrX:108205696-108206517
Coord C2 exon
chrX:108205660-108205695
Length
822 bp
Sequences
Splice sites
5' ss Seq
CAAGTAAGA
5' ss Score
7.61
3' ss Seq
TATTTTTAAAAAAAATCTAGGGT
3' ss Score
3.8
Exon sequences
Seq C1 exon
GGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAA
Seq A exon
GTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTGTTTTCCCTACATACTATGGATTCAATGTAAACCTGTGTAATTTAGGTCCTCCTGGGTGAGCAAGGGCAACCTCCATTCTTGGAGGGTTAAAGTAAAGCATGCTCTTGCGAGGAGCTATTGGAGTTATTTATCAGAGTCTATCTGACCATCCAATCTGTGCCTCTAAAGCCTCCCACCCTAGCTCAACCTAAAGTATAGCCCAGGGATGGCAGATCCCTGACACATTTCTTGCCACCTTCCATTTCCTCACCCATGACAGGTATTGCTAATTAATCATACCACCATCACTATCACCCACCCTGAATACTGAAGAAGCTTCAAATTCCTTCCTAACACTGCATCTTGGGCAGCTCTACCTACCTACCCATTTTTCTGACACAAAACCTGTTTATCATCACTGGTAGAGGAAAAGCATAGCCAGTCATCTATGTGGTTCTGGGAAAGCTGTGTCCCCAGATTGTTCTCTCCAGTGCAAGAAATCCCATTACTCAGTACTTTGGCTTAGCTTCACCAAAGGTCATCATTTTAAAATTTCTGGCCTGTTGGGAGGAATGACACATGAAGTCTTCACTACCTTAGCATTAATGTGATTACCAGGTCAATTTGGGGGATTTCAAAGGAGATAAAAGGGAACCATAGGAAAGACAGCTAGAATCTACTATGCCAAAGCAGGAAAGATGGCTGAGTTACTGGGGAGTGACTCTCAACATGCCGTGTTCTTTTTGACTGAAACTAACAAGTGCTAACTCTTTCTTATTTTTAAAAAAAATCTAG
Seq C2 exon
GGTCCTCCAGGGCCTCCTGGTCCTCTTGGTCCTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197565:ENST00000372216:9
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=1.000
Domain overlap (PFAM):

C1:
PF0139113=Collagen=FE(33.9=100),PF0139113=Collagen=PU(14.0=38.1)
A:
NA
C2:
PF0139113=Collagen=FE(18.6=100),PF0139113=Collagen=FE(19.3=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
LOW PSI
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