Special

HsaINT0038041 @ hg38

Intron Retention

Gene
ENSG00000197467 | COL13A1
Description
collagen type XIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2190]
Coordinates
chr10:69930400-69932604:+
Coord C1 exon
chr10:69930400-69930552
Coord A exon
chr10:69930553-69932559
Coord C2 exon
chr10:69932560-69932604
Length
2007 bp
Sequences
Splice sites
5' ss Seq
CCGGTGAGT
5' ss Score
10.9
3' ss Seq
GTGGTGTTTTGTGCCCACAGGGA
3' ss Score
10.39
Exon sequences
Seq C1 exon
GGACCTCGCGGTAAACCAGGAGACATGGGCCCTCCTGGTCCCCAAGGCCCCCCAGGAAAGGATGGACCTCCAGGAGTGAAGGGAGAAAACGGGCACCCAGGGAGCCCAGGAGAGAAGGGGGAAAAAGGGGAGACAGGACAAGCAGGCTCACCG
Seq A exon
GTGAGTGGCAGGGCTGGCTGCCCTTCCGTGCATACACCACTCCCAAGCATGACGCCAGCTTTGCAGGGCTTTGCACTTTGCATGATGTGAGCTGCTGCCTGGGCTAGAAACCTGGGGCCAGGGCTTAGGGGTGGAGGATTCACTCAGCTTCCCCTCAAGTCACTCACTTTATGAAGGCCAGTTTCCCGACTCAGGAGACCTGAGTTGTGCTCTGTCATCTGTATCCTTGGGAAAGCCACTCACTGTTGCAGAGTCTCCGTCTCCTCATCTCTAAACTGGCGATAATAATGTTTTCCCTGGATACCTCACTGGATTGTTGGGAAAGAGATGAAGACATGGTTTAGAGCTGCCTCTTTGGAAAGTGTACAGAAGCCCTATACCCGGGAGAGGCTGCATGTACAGAAACGGGGCCTTCGCCCAGTCCACTAGGCTGCTAACTTGACTTAGGGGCCTTCTCTGGGTCTCAGGGGTTTCCATCTGTGAAATGGGTGCCATCCTAGACACCTACCCTTGGAGCAAGGGAGCCACATCCTGTGCAGGCCACAGTTGGTCACACTCAGCAAGACCACCTTGAGCTCCACTAACAGAAATCATTGTCAGTCTGTAGGGTCTAGATGGCCCAACTGGGGAGAGGAGAACATGGTGGCCAGAGCAGACCCAGAGTGGCAGGATTGCCTAATCCAGCTGGGCTCCTGAGGTTTACAGTGAAGCCAGAGGGCTGGGTGTCAAGGTTGCCTGCAGGCAGCCACAGATGAGGGTCCTCCTGGGGGCCACCAGCCTAGTGGGTGCCTGACACTGTGACGAGGCTGCCCTAATCCCAAGCCTGCCGACCCAGCCTGGGAGCAGGCAGGGAGGGTCCTCTTAACAAGCAGCTACTTCATTTGAGTGTAAACAGGAGTTGCATCTTCCTTGGCTCACGGTATGATGGCCTCTAGGAGCACCAACCTAGTTCGACGGTGCTAGAATCTTGGTCTCAGAATTCTCCTCTAGGAAGTGGAAAGAGCCTCAGAGGTCAACCAGTCCCAAGTCTGACCCAGTGCAGGACTCCTCACTCAACCGGCACAGGCAGGCAGCTCACTGCCTCCAGACCTGTCCACTGCACCATGGGGCAGCCCCAGGATGGAGGGAGCATTCCTGGATATGGTGTGGAAGCTCCCTTGTCAGCCTCCCCGAGTTGACCCCTCAGAGCCTCTGGCCTCTGGAGCCATATTTATTATCTATTGCTGCATAACTAATCACTGCAAACGTAGCGGCCTAAGAAAATACACACTTATTGGCACATAGTTTCTGTGGGTCAGGAATTCAGGCACATCCTAGTTGGGTCCTCTGCCCATGGTCTCATGAGGCTGCAATTAATGTCTCAGCCAACTGTATTCTCATCTGGAGCTAGGGATCCCCTTCCAAGCTACTGGTATTGGCAGAATCCAGTTCCTTGCTGGAACAGAACTCAGCTCCTAGAGGCCACCTACAGTTCCTGCCACCTGCGCCCCTGCCCTCCCCACCTCCCGCAGAGTAGACAGTTCACATTATAGCAACTGGCATCTTCAAGGACAAGGCCAGCAGTAGGGTCTCTCTAGTGTCTAGTGCTAGCAAGACAGAGCTGTGTGCACGTGTGTTTGTGTGTTCATGTAACATATTTGTAACATAATCTTAATATATGTTATATGTCACCATCTGTATGACATGTATGTTATAATCTGCAACATAATCATAGAAGTGAGGTCCCACCACCTTTGCCATGTGCCTTACTCCACGGCTAAGAAACAAGTCACAGGTCACCCTAAGGCCTGTACGCTGCAGAGTCCACAGAGAGTATCAGCCTCTCCTCCCCTGTACTAGAGCCTCAGATTCTGTCCTGCAGGCTGACACCTCCACATCCTCCATGGTGTTCCTTGTTGACCCCTAGACCAGTCACGTCCCAGTCTAGTTTGTCACAGATGTGAGGGTGCGTCTGTCCCAGGCTTTCACAAGGGCTGGCATTCATGCAGTGGTGTTTTGTGCCCACAG
Seq C2 exon
GGAGAGAAAGGAGAAGCCGGGGAGAAGGGCAATCCAGGAGCAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197467:ENST00000398978:29
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=PD(36.7=43.1),PF0139113=Collagen=PU(71.0=86.3)
A:
NA
C2:
PF0139113=Collagen=FE(23.3=100),PF0139113=Collagen=PU(0.1=0.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
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

  • Autistic and control brains
  • Pre-implantation embryo development