Special

HsaINT0038958 @ hg38

Intron Retention

Gene
ENSG00000187498 | COL4A1
Description
collagen type IV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2202]
Coordinates
chr13:110155283-110161369:-
Coord C1 exon
chr13:110161192-110161369
Coord A exon
chr13:110155398-110161191
Coord C2 exon
chr13:110155283-110155397
Length
5794 bp
Sequences
Splice sites
5' ss Seq
TAGGTGAGT
5' ss Score
8.83
3' ss Seq
TGTCTCTGCTCCACTTCCAGGTG
3' ss Score
11.79
Exon sequences
Seq C1 exon
GCACGGCCGGCAGCTGCCTGCGCAAGTTCAGCACAATGCCCTTCCTGTTCTGCAATATTAACAACGTGTGCAACTTTGCATCACGAAATGACTACTCGTACTGGCTGTCCACCCCTGAGCCCATGCCCATGTCAATGGCACCCATCACGGGGGAAAACATAAGACCATTTATTAGTAG
Seq A exon
GTGAGTCGAGCATCTGTAGGAACAAATGCAAAATTGAAGAGGAAAAGTCTCTAGTCTGGACAAGCATATGTTTTCTATTTTTCTCCAAAACGTTGAATCCATTGCCATTTAGCTTATTATTTGTGATATTCGAGTTTTGTAATGGAAATCTACCATAAAAATTATTTGACATAAAAGTCAGTTGGCTGGGCACAGTGGCTCATGCCCGTAATCCCAACACTTTGGGAAGCCGAGGCGAGAGGGTTGCTTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAAGATGACGAGACTTCATCTCCACAAAAAATACAAAAGTTAGCTGGGCGTGGTGGTGTGAGCCTGTGGTCCCAGCTACGAGGGAGGCTGAGGTGGGAGGATCACTTAAGCCTGGGATGTTGAGGCTGTAGTGAACTGAGACCACACCACTGCACTCCTGCCTGAGCAACAGAGTGAGAACCTGTCTCAAAAAGAAAAAAGAGTCAGCTATTCTCTTTTAAAATTGTGGTGCAAAACCATGGTGAGATAATGCCAGGCTTGCAGAGATAATTTATATTTTGCCTGACTCACTGTGGTGGTTGCCTTTCCTCCTGTGAGCAAGGTGATGCCACTCGATTCTTCAGCAAGCGTTGGAACAGTGTTGCTCAATCTTTCTTTTTAAAAAGTAACAGCTTCCCCAAGGAGCCTTTTAAGACATTGTTTTCTGAATCATCCCTGCCCCTATGAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCCTATGAATTTTTTTAAAAGTTATTTTTAATTTTGGTAAAATGGACATAACATAACATTTACCATCTTAATAATTTTTCAGTGCACAGTGTAGTGGCATTAAGTACATTTGCAGTGTTGTTTTACCATCACCGCCATCCGTCTCCTGAACTTTTTTATTTTCCCAAACTCAAACTCTGTCCCTGTTAAACACTGACTCCACATCCCTCCTGCCAGCCTCTGGTGACCCCCCATTCTACTTTCTGTCCCTGTGAATTTGACCCCCGTAGACACCTCATGTAAGTGGAATCATACAGTATTTTTCCTTTTGTCACTGGCCTGTTTCACTCAGCATAATGTCCTCAGGGTTCATCTATATTATAGCATGTGATAGGATTTCTTTCCTACTTAGGGCCAAATAATATTTCATTGTGCATAGGTGCCACGTTTTGTTTCTCCATTCCTCTGTCACTGGACACTTAGGTTTTGTCCACACCTCAGCTATTGTGAACAATGCTGCTATGAACATGGGTGTGAAAATATTTCTTTGAGAGCCTGCTTTTAATTGTTCTGGAGGTACACCCAGAAGTAGAATTGTGGGATCATGTGGTAATTCTATTTTTAGTTATTTGAGAAACCTCCATGCTGTTTTCCACAGTGGCCACACCCTTTACATTCCTGCCACAGCGCACAGGGTCCCAGTTGCTCCACGTCCTCACCAGCATGCGTTGTTTTCTGCGTTTTTGATAGTAGCCATCCCAATGGGTGTGAGGGGGCCCCTATGAAATCGTAATACCGCAGACATACTGTGTATCTCCTCTGTTTGTGTATTGTATGTATATCTGTGCTTTATACATAAAATTATACAGATTTATACATAAAAAGTTATACAATAATACACACACTCCCCAGTTCCACCAGTTTTTGCTCCCTTGGGTGATATTGTACCCATCGAAAATGCATGTGTTGGACTGAGCGATCTCCCTTGAGTGTTTATCCGCACTAATATCTGAAGTACGTTTTCAGGCCCCAGGAGCCTCCCTGATAGGAAGTAAGATGGAAAACTGAAATTATTACCACTGAAAATAACATGACTGTCCTCTCTTTGCCTCTTTCCTTCTAATTAAAAGTTTATTGCTGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAGCATGGCGAAATCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGTTACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGCAGGCGGAGGTTGCAGTGAGCCAGGATCGCACCATTGCACTCCAGCCTAGGCGACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGTTTATTTCTTAGAAATATTCAGAAATAATAGGAAAGTGGCCAGTGAACAAATTCATTTGACTAAGAAGCTATTCCGTAATTTTACTTTTTACATATTAAGATAATGATAAAAAAAGATACAAAGTTTTTTATATTCCCTTTAAAGAAATCAGCAGTCTTTGAATATGAAGAAAGATGTAGCAGTATCAGGTAGGAAGTGCCCTACATTCAACAGAAAAGGGAAAAGGGAAGCAAATGCTTGGAGTCACCCCTGGAGCTCCTGCCCAGCTGCCCCAGGCTGTGCCTTTAGCCCAACTCCTTTCATTAGATGAACATGCCCTGTTTGGGGGAAGACCAGGGTTACGTGCCAGGCAATTCCTGGCAGATGACAATTTAGTGAGAGAGCTATGCCACGTGGGACCATGGACCAGAGGGCTGGAAGGTGCCTCCTATGTAGGAAAATCTTAGATCTTTGATCCCCTTACATTAAAATATCTACTGACAGTTTTCTTTGATTTTTTTTGAGCTATAAGAAAACTTATTTTATAGGTCTTAAAATGGAGAATATCATTCATTACACTTCCAGAATGGCACTTTTCAGAATGCAGGCAATACTTCACCTGTGTGAGTGGCTGCCAGATATTGACTGTTTTGAGACTTTTCTTGCTCAGAACCATGCCTGATAACTAGAAGGAAAAGTAACAACTTTTGTGGGTTTCTTTTTTTAGCTTCTTTTACACAACAGGTAGAAAAAGACTATTCATTGATAGGTTTCCTGTTTACTTTCTTGGCAATGTTGACATTTGACCTTGATTCAGAGCTCCTTGACAGGAGCTCTGGCATGCCCTGGTGGTAGTCCAAAAACAGGTCTCAGAGAAGCTGTGTGTCTGAGACCAGCATTTCTGTGTGATGCATTCCTCTCAGTAAAACACCCCTGGTCTTTGAGCACCAAGAGTCTAAGTCTCTGTATGTTTTGATCCTGAGATGAGCTTCTAAAGCCAACGGGGAGGTGCTAAACCTTAGAGTCTAAGCAATGGGGCACAGCATTTCCCACTTAACATGTCATTGGACCAGAAAGTCCTGAAATGTCCCAGGACTTTACATTTCCAGATTTTTATGTCTTCCTGTTAGTTGACACATCGAAGCTCAGCATGAAGGGACCTTCCCAGGCATGTACTTGAAGCTGCTGCTTTTGCATCAAGTCTGCCTCTACTTCCCTCTCGTAGAGAGGCTGCCCCTTTGTCCCTGTCTCTGAGCAAGCAGGTTTCCACGGTTACTGAACTTAGTGGTTTCCACGACTTCTCAGGACTTACAGGTTCCTTCTCAGCTCTTCCCTTTAGGGAGGTCCGAAAGCTAAATTTTAGAAACAGCAAATGACACAAAAGCCTTCGTTTTGAGCAGAAAAGGTGGCAGTTTTCCAGCTTTCATCCGATAGTAGGGCACAATTTTCTAAGTACTTTCTAGCTTTCTGCAGACAAGACTCACGAAATAAATACTGATTGCTAATTGCTCTGACGAAAAGACCGCTGGATTGAGAGCAAGGAGAACTGCATTTTCGTTCTGTCTTGGACACAACTAACCCTGGCCTTAGTTTCTTCATATGCAATATGGAGAATTTGGCCATGTGAATTTTAAGGAATCACACAGCTCTTTAAGCCTGCAATGGGGCAGGACCCTTGAATCCCTCAGCCCAGAGACAGTCTGAAAAAGACAAAACCCTTCCCTCCAGGCTGTATTTCTAGGTCTCGTGTCTAGCAAACAGATGGTGGCAGATGTATAAGGCCAATTTCAGTCACTGTTGTTTAACTGAACCTTTTAATTCATCTGCATTTGGGTGAATAAAATAGAAAATTGCACACACCACACATACACACACACACAGACAGACACACACACAAGTCCATGGAAAATCAAATGACTCATTCAGCCCTATTCCCCCTTCTGATCCACGTTCATGCAAATGTCCCAGTATAACTAGGTGTAATTATTGACACCATTTATAGTCATTTATCAGCATTGTTAACACTCTGTTCATTTTGTGACTTGAATGTAATTATTCACTGTTGACGTTTAATTTTTTTTTAAACAAAGCATTATCCCACCATCAAGGGTTCCCTTCATTGAGAGGGTCTTAGTCAGAACACTGTGCTGTTTTAATGTGTTTCTGGTGCAGTCCCAAGGCTGAGCTGAATCAGCCTGGCTTGGGAGGCATCCTGTCCTTGGGAGGGTCCTCTGGAGGTCACTTCAGCGGCAGTGGATGCTGACAGCCTTGGACCTTGGACATCTGAGCCAAGAGGGCAGACCAAAAAGACAAGTTTCCCGCAGGAGGCCCATGTGGACATTCAGCCTTAAGTTCATTAAAGCATGCATTATTTGTCTTAGTTACTCAACTCACTAAGTGCATTTCTTATACTAAAGATTATTAGTAGCTTCAAACTGTTGCATTCCAGAAGGAGTAGCTCTTGGATTTCACCAGCATTTTTTCTGAAGCATTTATTGTGCTTGTGGAAATACGTATGCATTGTTGAAAGATTGGAAAACACTCAAATGCCCAAAGAAGAAAAGTTGCCTGTAACCCCAGCCCCTCCAGGAGAGCCACTGTTAGAGCTTTGCCTTCCTATTTTCCCCTTCTACAAGACAGACAGTTAAATAACTCGTGTTGGATCTATTTTTTAAACAATATTTTAGGGGCAGGTCTCGCTATGTTGCCCAGGCCGTAGAGCAGTGGCCCACAGGCAGGCCGAGCATAGCTCCCTGCAGCCTTGAACTCCTGGCCTCAGGCAGTCCTGCCTCAGCCTCCCCAGTAGCCAGGACTACAGGCCTGTGTCCTGCTCTAATTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCATTGACACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCTCCATGTTGGTCAGGCTGGACTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGACATGAGCCACCGCCCCCAGCCATCCTGCTCTATTTTTGAATTGAATGTTTTAATACTGAGACAGGCTTATAAAACCAACGGGGAGGTACTAAACCTCAGAGTCTAAGCAATGGGCACAATGTTTTCTACTTAATATGTAATTGGACCAGAAAGACTGAGTGAGGATGTTGAGTGTAGGTAACGGGGCAGTGCATGGAGGGCGGCCTCTGCCCTGCACCCCGGCTGTGCTGAGTGTCTCTGCTCCACTTCCAG
Seq C2 exon
GTGTGCTGTGTGTGAGGCGCCTGCCATGGTGATGGCCGTGCACAGCCAGACCATTCAGATCCCACCGTGCCCCAGCGGGTGGTCCTCGCTGTGGATCGGCTACTCTTTTGTGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187498:ENST00000375820:49
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.017 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0141314=C4=FE(53.6=100)
A:
NA
C2:
PF0141314=C4=PD(6.4=17.9),PF0141314=C4=PU(26.3=76.9)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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

  • Autistic and control brains
  • Pre-implantation embryo development