Special

HsaINT0038479 @ hg38

Intron Retention

Gene
ENSG00000101203 | COL20A1
Description
collagen type XX alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:14670]
Coordinates
chr20:63295040-63298020:+
Coord C1 exon
chr20:63295040-63295189
Coord A exon
chr20:63295190-63297909
Coord C2 exon
chr20:63297910-63298020
Length
2720 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
3' ss Seq
ACTATGTCCTGTTTCTGTAGCAA
3' ss Score
7.42
Exon sequences
Seq C1 exon
GTCAGGGAGAGGACAGACGGGGGGACGGCTGAAGGGCATGGCCTCTTCCCTGCCACAGCCCGAGCACCATGAGCTCCGGAGACCCTGCACACCTCGGCCTCTGCCTCTGGCTGTGGCTGGGCGCCACCCTGGGAAGAGAGCAAGTTCAAG
Seq A exon
GTAAGGACACTGGCAGTGGGCCCCTGCTTGCCCCGAGGCCACGCCTGCCCCACCAGTGCCCACGCGGGACGAGCCCTCCGCCCCTGAGCCCCGTCTTCCTCCTAAGTTGAATGCGTGCTGAATTCACAGCAGCTCCCACAACAAAGGCAAGACGGGAGGGAGCGTGTGCTCCCGCCAAACCTTCAGCCTCGCCTTGGGAGCACATCTCTGTGGTTTAGTTCTCTGTTATATTAATGCTTGGCCGAGAGTTATTCCACGAACACCTTTCGGAGCAGTCTCTAGGAAGCAGGAGGCTGGGGTAAAGATGGAGCCGCCTTCCCTTCCCTCCTGCCTGCTTCCCACCGCCGCCTCCCACTGGTGTTTTGGGCACATAGCCCTCTGGCTTCTCTCGGTGCGGCACTCGCATTTCCACGCAGCACCACCCCCTCCGTGCGCATCCCTGGGCGACAGCACCACGTCCTCAGAAGGCCCCTCCAGTCTGGCTGCTACTGGTTGGGGCGTTTGGGTAACGTAGGGCACCGCCCATGGCAGCAAAGGGAAATGGCAGAGGATGCTGTGGGCTCACCTGTCTGAGCAGCTTCTTCCTCCTGTTGAGAAATGTGGGTTTAGATTGACTCTAGGAAGGTGAATTTCCGTGTCTATGGAGAAGGCTCCGGGGCCTCGGCCACGCTGTAAACTTGTCCCTGGGCTGGGCCAACGCGGCGCCTCCCGGCACCTGCAAGCTCCTGGGAGGTTCCGGGCTCCCACTGAGCGATGGTTTTGTTCCGCTGGGGTGAAAGGCAGCTCCCCCTTCTACTGTGCGTTTAAAGCACCCCCACCAGGGCCTGACAGGCCGGGGCGAGGGAGCCTCCAGGTGCCGCTGCCATTGCAGAAGGGCGGGTGAGATGCGGGAGCCCCGGTGTAGCGTGGAGCCGCCTGTTGAGACCCTTCCGGGTTTCACGGCTTGTCTTGCCATGCTGATGTGCCAGGTTTGCCCTGCACACAGGCAACAGACCATTGCATGAGCAGGTGCCTTGGTCCCCTCAGCTCAGACAGGGTAACCCTGCCCTGGGGCCAGTGGGGGCTGAGATTTCAGTTTGAAAGAAGCTTGCACTGTCAATTTGAGCCAAATCAGTAAGTTGCTTCTACAGAAACAACTTGAGTTTAGGCGAAGGCAAATCTAGTTCTATCTAGTTCAGGATTCAGCATGATGGGGCCACCCCTCACAAGGGCCTTTCGGGGGCCATTGAGTCCCTGAGGACAGCCAGGTGGGCTGGGGGCACTGAGTCCAGCCCAGGACGGGTGGGAGCCCACACGCTGGGGCAGCCCTTCCCAGGATGGCCCAGGCTGGGTGCGGCCACAGTCCAGGGAGGGGAGCGTGGTCCTGGGTGGGGCCCTTCCCACCAGCCGCTGTCTGCCCAGTGCCCTGCTCAGGCCCCAACAGTGCTGTCCTCCAGCAGGGAGCTGGGGAAGGGGTCCCTGACGTTCTCAGGCAGAGTGGAGCAACAGAAGGCTCTTCACAAGCAGGGGCTGCGGGAGGGGCCCTGCTCACAGCTGGCCTTCAGAGCCCCCTCCTCATCCCCCACACATTCCTGCCTTTCAGCCCCATCCGGAGACCCGGCCCAGCTGCTGCCTGCTCTGAATGGGTCATTGTGTCTGCCCCAGTGCCCCCCAGCCCCTGCTCTTCCCCCCGAGCCCCAGCTTTCCGGGGGGCAGCCCAAAGAAGCCCATCTCTGTCCCCATTTTCCAAAAATAGCTGCCCCTACTGCAGAGCCCCGGAAGCTTTCAGGGGGCACCAACCCTCTCCAGAGCCCTGGGAGGTTGGCCAGGCCCCTGCCGCCCCCTCTTCCTCTCAGATGGCCTGGACACCCATCCCCCATCGCGGGAGGCAGCCTCGTCTTGGCATGGACGCACACATGTACCAACGTGCACACACGTGCCAATGTGCACACACTTCCAGTGTGGGATTCTGCACCCACACTCCCCACTGAGGCGGCACGTGCACCTGGCAGTGACCTTGGCAGCTAGGGGTCTGCAGCTGCATGGCCACTTGTCCTGGGGACCCAGCCCAGGGGACTCAGCCCAGGGGCCCCAGCCCAGGGGACTTAGCTCAGGGGACCCAGCCTGGGGACTCAGCCCAGGGGCCCCAGCTCAGGGGACTTAGCTCAGGGGACCCAGCCCAGGGGACCCAGCTCAGGGGACTCAGCTCAGGGGACCCAGCCCAGGGGACTCAGCCCAGGGGCCCCAGCCCAGGGGACTTAGCTCAGGGGACCCAGCCCGGGGACTCAGCCCAGGGGCCCCAGCTCAGGGGACTCAGCTCAGGGCCCTGGGCAGGTTGCCAGCTGCTGTGTTGGCTCGGGGCCTCCGATCATCAGTGGGGTGGTTGCTGTCCTCCCAGACATGGGCCTGAGCCTCTTCCTGGTGGGAGGACCCCCGGAGAGCCAGGCTGGGGCCTCCCTGGGTGGGACTGGACTCCCTCTCACCAAAGCTACCAGGGTGGCCCTGTGACTGCGGACCCCGGGGAGGGCCGGGTTCTCCTCAGCGCCCAGGCGAGGCCTCGTATCCCCAAGTGGGGCTGAGTCCGCCTCAGACACCCTGGGTGGGCTTCTGTCTCTTCGGGGTCCCCCGGGATAGGACTGTGTTCCTCCCAAATGCTGAGGGCAGGATGCCTGTACCCCCACAGCTGATTAGGTGGATGGGGAGGCCAGGTCAGTCCTGACCACTATGTCCTGTTTCTGTAG
Seq C2 exon
CAAGCGGTCTCCTGAGGCTGGCTGTGCTGCCTGAGGACCGGCTGCAGATGAAGTGGAGAGAGTCGGAGGGGAGCGGCCTCGGCTACCTGGTGCAGGTGAAGCCCATGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000101203:ENST00000422202:1
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=0.105
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF0004116=fn3=PU(46.7=92.1)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
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