Special

HsaINT0038048 @ hg38

Intron Retention

Gene
ENSG00000197467 | COL13A1
Description
collagen type XIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2190]
Coordinates
chr10:69947307-69952968:+
Coord C1 exon
chr10:69947307-69947342
Coord A exon
chr10:69947343-69952881
Coord C2 exon
chr10:69952882-69952968
Length
5539 bp
Sequences
Splice sites
5' ss Seq
CGGGTGAGT
5' ss Score
9.89
3' ss Seq
GACTAAACCATTATTTACAGGGG
3' ss Score
3.82
Exon sequences
Seq C1 exon
GGTTTACATGGACCACCCGGGGACAAGGGAAACCGG
Seq A exon
GTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGATCGATCGGTGATTCCTGACCAACATGGCGAACAGTTTTTCCTGATAAGTCATCCTAAATTGAAAGGCTTTACAAGGAGGGCCTTAACCTGTGGCATGTAGGGAGCCTGGGGCCTGATCCTCACATGGAAGCCTGTATTTTTCCACACAGCAAGGAGAGACTGAATCCCATGGCAGCCACCAGCTTAGCATTGCTATCCAGCAACAAGATCCATGTGTCCAGCTCTTTCTAGGTTGCCCTGATTGTGGGCCCCTACGTGATCATTTTAGATCCATTGCTACCTTGTCCTTGCCCTCTGAAACTTGGTTTTGCCAGGCATTCCAGGCCACTGGTGAGAGAGAAAATAAATTCCAGCTCCAAGAACAAGCAGACAGTTGTTGGAAGCAGCCAACCCTTTTAAAAAATATTACAGCCACTATTTCTCTTGGAAAGAGTCGGCAGGGCTCTGAAAGGACTGCGCCTTCTCAGACCCTTGCTGTCCCTTTGGTTTCTGCCATCTTCACCAGGACACACTTACCAAATGCCCATGGCACCCACAGCCACATAACAGGGGGTGGCACCGACCACAGCCTTCAGCATTTGGGCCCAGCAGGGAGAATTTAACTACATCTGACCAAGAGATGGCCTTTGGGTTCCCCTCTGGAGGGTCTCATCTGCTGCTGCATCATGGGGCTTCCTGGAGTGGGGGGCACACCCCCTAGAAACCAAGTGTGTCTCCTAGCGGGTCCTAAAATCCAAGGCGCTTAGAGGAGAAGGAACAGATGGAGAAACAAGGCCCAGACAATGATTATGTGTTCTGGGATCCCATGGAGAGTTAGAGGAAGAGCACACGGTCTCCAGAACCCAGGTCTTGTGGCTGATCTTTGCACACTGATACCATGTTCATGCACAGAAAGTGCCAGAATGCCTATGCTCCTATCTGGCAACAGTGAATTCCATCTCTTCAACTCAAGATCTATTTACTGAGCACTCCCATTTTCCTAAGTGCTCTTCACTGGCAGCTGGTCAAAAGCAACTCAGTTTGTCCCGCATCTTCTATAAACAAGAGGGAGCAGCAGCGCCACCCCTGCCCATGGCAAGACCAGGTCTGGAAACTGCCGGAATAAACAGACCTGCTTCCAGATGCTCTAAGCACGCTGGGAAGGACTTTCCTCAGTGTGGCATCAAAGGATTTAGGCCTCTAAAATCTTTGATCATTCCACCTCTTCATTGGCATACTAACTTCCTTTCAAATGTCTTTCTGACATGTTCTAGTTTTCTTTATTATATTCAATTAGTATTTTCTAAACCTCCTTCTTCAGACTTTTTCAGTTGGCTGGAGACACTGAGCCGTTTGAAGGCTGCAAAATCGGTCCTTCAAGGGACGGTGACCATGTTGCTCTAGAGGTGGAGGCAGGACAAGTACCCTTGTCACAGACAGAGGGAGGGTGGGGGCTGGCGGCTCTGATGCTGCAGCAACTGAGGTTATTGAGTCATCCACGGAGGCCCCAGGAATCAGTGGGAAAGTATTTCTATTCCCCTTCCCCTTCCCGATGTTTGACACACTTTCCTCCATCCCCTTTACAAATTAGGAATGTGTCACTTAGTAAAAGTCAAGTTCAGAAAACAATGAGGTGGCACGCACCTTTCTTTTGAGCACACCATAAAGAGCCAATTGACTTATTCCCAAAGAGCAGGTTTCCAACTCAAGGGCAGCTTGTCCTCTTCATGCCGGGGATTTGACTCTCAGGATGCCCAAATGTCCTGGAAGAGTCTCCCCTCAATCTTGCCTCCCATTCTGACCTTTCTTTGTTTCTTCGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCATTGCAAACTCCGCCTCCCGGGTTCAAGTGATTTCCCTGCCTCAGCCTCCTGAGTAGTTGGAACTACAGGCATGCGCCACCACGCCCGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTTTCAAACTCCTGACCTCAAGTGATCCTCCTGCCTCGGCTCCCAAAGTGCTGGAATTACAGACATGAGCCACCGCACCTGGCCCAGAGATTTGTTTTATCTTACAGTGAACCAAGATACAACCTTACAGGTATGCTTCTCCATGTCCCATCAAAGGATGGTCTCAGAGCCTCTTTCCTGTTCATGGAAGGAAAGTCCTTGTCATGGTGGGCAAAGGCCCGGAGCCCCAGACCAGGAGCTTTCTAAGGGACACACACGCCAGTGGAAAGAATATCCTGACCTTGTCACTAAGGGTGCTTCCCTTTCCCCTAAGTAGCTCTGTGAATTTGGCCCGGGAGCCACCTTTAGGGTAAGAAATCAGTCAAAAGATAAAGGGTGGCATGAATCTGGCAATATAATCATTCAGGAAAATTGGATGTTACTGTGGAGCTGCCTGCAAACCAGCCAGCTGAAAAGGTCTGTGTGCATGCAGTGAGGCTGCTTCTGCTCTCTGAGATGCCCAACTTTGGGGGGGTGGGGGGTGCACGCATGTTTGTGTGTGTGTGTGTGTGCGTGTGTTTGTGTGTGCGTGTGTGTGTGTGTGTGCATGTGTTTGTGTGTGCGTGTGTGTGTACGTCTCACTTCCTAAGTCCGTCTTGTCTCCTCACTTCTTCCTCCTCCACTATCTCTTTTGGCCTCTTCCTTTACTGCTTCTCCCCCCAGATATGTTCATTCCGTTATAATAGTCCCACGTCCTTCATCCTTTCCCCTCCCCCTCACCAGCTGTCAGTTTATCTCCTCCAAAGTCCACTGTTAGACATTTACTTATGTTTTTAAGAAGCCTTTGCCCCTTGACTTTATTTGCCCCTTTCTCCCTTACCAGCTAGGGTTCCCTCTGTGCAATGGATCTCTTTTGTGTCACTGTCTGGGGGTGGGAGGCAGGGAGAACGCAGGCAACGTTACTACTCTAATAGCCTCAAAGGACACCGGATTTGGGGCAATTGCACAGGTTCTTAGAACACAACTCCCCATAGTGTCCGTTACCTGTTGTGAAAGTCTGGAACACGCCAACCCTCTGTTACCCCCGGGGTATCCTGGACTGGGATCCCCCACTCTGGCAGATTTGCCCGGCTTCTTCATTAGGAAACTGCTCATGACCCAGAGAATGAGGGGCCACACTCCTGAGAGAGTTTACCAGGGGGCTTCCCCACCCAAATAGCTAGTGGTTTTGCTGGTCTACCATTTGGGGATGATTTGTGCCATGATGTTCTTGTTGGCAGACAAAACTTCAGGCCGATGGGAATATACCTAATATGTGCATACATATTTAAACGCATGTCGTTTTCTAAGTAAGGATTTGCATTTTTAGAAAATTCATTTAGAATAATGCACTGGCAGTTGCAGACCACCTCTGAAATAGAGAAATTTGAGTAATTTCCGAAGATCTGGAAGAACATCAAAAATATTATTTTGTTTGTTTGTTTGTTTGTTTGTGAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGATTACAGGCTAGTGCCACCACACCAGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCCAGTGATCCGCCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACTGTGCCCAGCCAAAAATATTCTTATCCTCTGCCTTCCTCTAATGAACATCTACCCTGCAGCCTTCCACTGCAGGAACAGTGCACATGACAACCTCTGACCCCAACCTTTGGCTCCTATACTGGCTAAAAAGAAATAATGACCATTATTATCATTATGAAGCAGCTATCGTTTACTGTGCACATACTATATTCCATTATTAAGCATTTAATGTGCACAAAGAACTCACAACATTTTTTTTTCAGACAGGGTCTTGCTTTGTTGCCCAGGCTGAAGTGTAGTGGTGCAATCATGGTTGACTGCTGCCTCAAACTCTTGTCCTTGGCTCAAGTGATCTTTCTGCCTCAAACTCCTGAGTAGCTAGGACTACAGGGACATGCCACCACACCCGACTAATTTTTTTATTCTTTGCAAAAATGAGGTCTTGCTTTATTGTCCAGGCTGGCCTCGAACTCCTGGCCTCAAGTGACCCTCCTGCCTTGGCCTCCCAAAATGCTGGGATTACAGACATGAGCCACCATGCCCAGCCTCACAACAAATTTTTGAGGCAGGTATTATTGTACTCATTTTACAGGTAAAGAAACTAAGGCTCAAAGAAGTAACTTCACAAAGTCACGCAGCTAACTGTCAGAACCAACTCTGACTGCAAGCCTTTGTTCTAATACGCTGCCCAGCATTCAGTGTCACCCTGGAGTGACACAGTTGAAGTCCCCAAGCGTTAGATAATCCCCCTTCCATAGAGGAGGGGAGCTCCCAGGAAGACTCCCTAGGGGCATACTGAGCCCCCTTTTTAGGAAACACATATAAAAATGCAAATGCAAATTCATTACAGAAGTGATGCTTCACTTTTAAAAAGAATTCCCCACAGCCCTTCTTTAAATAGACTCTGACACATACAATATAGGATTCAATTTAGAAAAATGATGTTTACTGTAGCTTTTCAGAAACAAATGAATTCCTTAAACCAACATATTCATATACAAATAACGGTCTGACTTCAGACCAGGATGAACCAGAGACACAGATAGAACAGGAGAAGCCAGCTGAGCACAAGGGGCCATCCGTGAGCTCTGGACACACACATACATATGTGCACATGGACACACATGCATAATAAAGGCACACACATGTGTTCACGTGCCCAAGCACATACCCACACACACTCAAACGTGGGCACACACACACATATACACAAGCACATACCTGTATACTCATACATACATATACACACATGTGCACAAGCACATATATGCATACACTCATACATGCTATGTTCACACACATCCCAGGGCTCCAAGCAAAATCACCTTGCCTCCTAATAGAATGTCAAAAGGATAAACATTAATTGGGGAAAAAAAAAGTTTTCACCCCAAAGCCTTTCAAAAACAGACTCAAAGAGAAGGAAGTTGGTCCCTAGCCACTGTGTTCAGCACAGACCCACGCTGGGCTTAGTATTAGCAAAACCGGCCACCAAAATCTTCAGTCTGTGGTTCCCTGCACCTGCAGCTCTGAGCCCTCTGCCTGTCCTCCCCTCCCCCTCCCACCCACCTTAGCCAAATTCTCAGGTTCCTGGGGGGTGGGGAGGAGGTGGGTATTGACTCCAAATCCTACTGGGGAGAATATCCTAATTTAAAGCATCTCTTTTTCCCTTTTTAATTTTATTTTTCTTTTTCTGTCTTCAACCTTAACACATGAATGATCTTAAAGTTTTGATGTTTTTTTCTCGGACTAAACCATTATTTACAG
Seq C2 exon
GGGGAGAGGGGGAAGAAAGGCTCTAGAGGGCCTAAAGGGGATAAGGGAGACCAAGGAGCGCCTGGATTAGATGCCCCCTGCCCATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197467:ENST00000398978:37
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(13.8=100),PF0139113=Collagen=FE(15.7=100)
A:
NA
C2:
PF0139113=Collagen=PD(1.2=3.4),PF0139113=Collagen=FE(40.0=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
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