Special

HsaINT0038476 @ hg38

Intron Retention

Gene
ENSG00000101203 | COL20A1
Description
collagen type XX alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:14670]
Coordinates
chr20:63313117-63313891:+
Coord C1 exon
chr20:63313117-63313249
Coord A exon
chr20:63313250-63313742
Coord C2 exon
chr20:63313743-63313891
Length
493 bp
Sequences
Splice sites
5' ss Seq
CCTGTAGGT
5' ss Score
3.22
3' ss Seq
CAACCCATGCTCTCGGCCAGCCA
3' ss Score
1.26
Exon sequences
Seq C1 exon
ATCTCTGTCCCAGGGAACCTCGGCACGGCCGTCCTGCCTGGCCTAGGGAGGCACACAGAGTACGACGTCACCATCTTGGCCTACTACAGGGACGGGGCCCGCAGTGACCCTGTGTCCCTCCGCTATACCCCCT
Seq A exon
GTAGGTGCCCCTCCACTTCCCCTCTGCTGGGTGTGGGGCAGGGATGGCCCAGGGGATCCCTGACTCACCCGCTGCACAGGCCCAGGACCCTAGACTCCCAGAACTGCTGGCTCCAGAGCCCTGATCACTGGGCCTGGTCGTTGGAGTCTGCAGCACTTCCTTGAGCTCACACGGGTATAGGTGTTCCCCCAGTGGCCGAGTGCACAAACCACCTAGTGTCCCGCAGGGCAGCCCAGGCAGCAGCCCTGGTTGGGGGTATGGTGAGGGCCCTGGCAGGTGGCGTGGTGTGGGTGTGGTGGGGTGCGGTGTGGGCAGTGGCAGGGGTGTGGTGTGGTTGTGCCAGGGGGGTGATGCGGGCTGTGGTAGGGGTGTGGCATGATGTGGTGGAGGCATTACGCAGAGCAGGGTAGGGGCTGGGCAGCTGGTCCTCTGGCCACCGGGTGCCTCCTTTCTGGAGGGGCCTGAGCCCCACACAACCCATGCTCTCGGCCAG
Seq C2 exon
CCACGGTGAGCAGGAGCCCACCCTCCAACCTGGCCCTGGCCTCGGAGACCCCCGACAGCCTGCAGGTCAGCTGGACGCCCCCGCTTGGCCGCGTGCTCCATTACTGGCTCACCTACGCCCCCGCCTCTGGCTTGGGACCCGAGAAATCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000101203:ENST00000422202:16
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.200 A=NA C2=0.220
Domain overlap (PFAM):

C1:
PF0004116=fn3=PD(43.9=80.0)
A:
NA
C2:
PF0004116=fn3=PU(54.3=88.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCGTCCTGCCTGGCCTAG
R:
GGATTTCTCGGGTCCCAAGC
Band lengths:
254-747
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