Special

HsaINT0039092 @ hg38

Intron Retention

Gene
ENSG00000081052 | COL4A4
Description
collagen type IV alpha 4 chain [Source:HGNC Symbol;Acc:HGNC:2206]
Coordinates
chr2:227094125-227098798:-
Coord C1 exon
chr2:227098694-227098798
Coord A exon
chr2:227094290-227098693
Coord C2 exon
chr2:227094125-227094289
Length
4404 bp
Sequences
Splice sites
5' ss Seq
CAGGTACGG
5' ss Score
10.88
3' ss Seq
ATTCTTGATTTATCTTGCAGGCA
3' ss Score
9.03
Exon sequences
Seq C1 exon
GCCCACCAGGGGACCCAGGGTTCCCTGGCCGCTATGGAGAAACAGGGGATGTTGGACCACCTGGTCCCCCAGGTCTCTTGGGCAGACCAGGGGAAGCCTGTGCAG
Seq A exon
GTACGGATGCCCTGATGTGCCCTGGCTTTTACAGGTCAGATTTCCTGCATCATCATCAGCACCAGTAGCTTTCAACTGTAGCTGATATTGGAATCACCTTAGGATTGTGTAAAATAATACCGATGCCTGTGCACACCCCAGACCAAGAATGTTAGACTCTTGGGAGATGGGCCTGGGGATCTGATACTGTAGAAGCGCTCCTGTGTCTGTAACATATAGCCAAGGTTAAGAACCACTGAACTCAAACCAATTAATCACTTACTTGGGAGGAATACAGGTTTCTCAGCTGCACCCCAGAACATTCAATCAATATCATAGGGGTGTTGTAAGGAATATGTATGTATAACAACAGGCCTCCCACAAAGTTATCGCATGCAGATAAGGCTTGGAAACCACTGCTAGGATTAGTGTTTCCCCATGTTTTCCCACCCTGCTGGAAGGCTCTCCCTGTTGACATCTACTTGTAAAATTTAGTACATTCACCTAATCCCTTGCTTAAATCTCCTGCATGAAAGGTGGAAGTAAAAATTATGATTAAAAAAACTTTCATTCATAATTACTTTAAAAAAGTCTTCTTCCCTCGCGTCAAAAACAAAAATAAGAAAATGATGGGCCACAGTGGCATTTGGTAAAAAGCCTGGGAAAGAGTCCTGTTGGCATAAGGACTTTGAACTCCTTCAGGTGCTGCGCTGGTTAATATTCCTAGTAAGATTAGGAATTGAAGTTTAGAGGGTATTTGCAGTCTGTGAACCCAGGAGAACTGATTAAACCTGTGAGGAGAAAAGTCTTGAGTAAACGTAGTTTTACCCAGCCTGTGTCTCTTGTTATATTTACTGAGAAGAAGTGAGAAATTTTCTGAGATATTCAACTGCTAACTACAAAACTCTTGTTTAATCTTCCATGAATCTAGCTTTCAGTTTGCAGGATTCAATAACCACAAAGGTGGAAAAGCTTTGTCTAGTTCACTTAACCTTTAGATAGCACAGCCTTGGCCTAACTGACCCAGGAGTATATAAATAATATAGAGTATTCCGTTGGTCAGAAAGCACTGGACTCTGGTCTTAGAATTCTCCAATCAGGCTTGTTTGTAATAGAATAGTGTCTCCAGCATATTAAAATGAAGATCTAATAGTAAGTAACAAGTGTCTCTAGTGGATTCAAACCCAGGAAACCTCTTAATTCACAAGGTTTTAAAAAATAAATTAACCCAATAGCTTTCAAATCTTGACTATGACCCATAGTAAGAAATGCATTTGATTTTACATTTATATGAAAAACATATACATTTATATTACACAAACATGTATGTATCCATATGTACAGGTGATTCAGACAAAAATACACAGAAGTATACATTTTCGGTATGTGACACACTCTTCTATCCCATTCATTTCTTTTATAATAAAAAAAATTTAATGCTGTCACAACTTACTCTATTGACTTCATGCTCTACAGTTGGGTGGACAATACTGCAAGATGCCACACACTGTAGCCCATTCTCCCTGTTGGCAGGTGGTTAAGCATTCTTCTTGGCAATGGGACAAGGCAGCAGGCAGCACCCAGGTTCATCCAATGACTGATTGTATTGAGTCCACATCAGGTCTTAGAAATGGCATGAAGACAAGATGGCAGCCAAATCCACAGGAGCTCATTTTCATTTTGTTCTAAGCACAGGAGTGTATCTAGTCCTATTATATACTTGTATATATAATTTGTAGATATGATAGATATTATTGTTAATATCTATGGTATTTACTATATATACAACGTATAGAATATCTTGTAGATAATTTGGTAATTATCTACAGTATTTACCATGAGATAAGCACAGTTTCAGAGTCAGACACTTGTAATCAAATCCCACCTTAGCATTTAGTGAAAGCCATATAGTATAATGTGGTACAGTGAAATACTTAATGCATTTGCACTATGAACTAGAAAAGTTCCAATTTCTCCTACTTGCAAGCTGTGTGATCTTGGACATTTATTAAACCTCTCTGTACATCAGTTTTCTTATCTGTAAAACAAGACCTTGGGGTTGAAAGAAATAATATGTATACAGCCTTTAGACTGCAGTCTAGTGTATAGTAAAGATTCAATATATTAGCTATTATTACTACAGATATTTGGCCTAAACTTTGTGTGCCTTATCTGTAAGGTATAAACTTTGCAGGATTGTTCGAGGAGTGAATATGTTTGTATGTCTACTGAAGCCCGGCACATATGGACACAATAATGACAGCCATTAATTTAATAAACATGCTACATTACTGATTACTGACAGGGTTTCAGTTATCTCTTGCGGAAAAAATTTCCTAAAACCTAGTGGTTTGAAACAATAGCAATCAGTACAGTACCTCTCACTCTTTCTGCAGTTTAAGAGTTCAGGAAGGGCTGGGCCTGCCTGGACACCTCTCTGATTTCTCTTGTGTAGCCTCAGGAGCCTCCCTGGGTGGGCTCTGTACTAAGGCTTCCTTACAATATGGTAGCTTCTTATCATTGCTTATATGGTAGCTCAGAATTTCAGTCTCAAGTGTTTTGGCTCACAAGGCAGAAGCTGAATCATCTTTTCTAATGGCCTCATTCAGAGGGAGGCAACACACCCACCTTTTGATAGAGAAATGTCAAAGTTCAACAAGAGGATGTAGGACAGAGCTCCCGTGATGGCCATCTGTCAAAAATGCAGTCTTCCACAGAGAGGATCTGGAGCCAGACACGCTTAGGAAAAAAGCTGTGAGAGGTGGTCACTCTCACAGAGGCTTCCGGCTATCTTTTTTTTTGTTTCTTTTTGAGATGGAGCTTCGCTCTTGTTGCCTAGGCTAGAGTGCAAGAGTGCAATGACACGATCTTGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAATAGCTGGCATTACAGGCACCTGCCACCATGCCCAGGTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATTTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTATTGGGATTACGGGTGTGAGCCACCGGGCCTGGCCAGCTTTCAGCTATCTTTAAGCCAAAGACAGCAGCAAGGGGAGCAGGATGTCAAGGGGAAGCAGGATTTCCTGCTGTTGCATTATTCGTTTTGACCTCATCTGAACACACTGAACATTCACTGAGCATGTGCTCTTGCTGGATGTTACACTAAGCTTCTTACATGGATTATTTTATTTAATCCTCATAACAAGCCTCTGGAGGTATATATACAGAATGCTCAATAAGTTAAATAAACTGCTTAAGGTCCCCTGCTACAGAGGGAAAGGCCAAGTTGAAATCTGGTACCTCCATCCTTCCCCATCAACCTGGGCTGCTGTGATAGGTACAATATTTTATGTTCTACCTAGATGATTACGTGAGTCTATATTTTTACCCACTAAGTATGCTAATATGTTTATTTGGATTATTTTTACCAAGTTATCAAGGTAGAAAGATTGAAAAACTAATCATTTAATTAAATCAAATATGTTTCTTCCCCAATAATCCTAAAGAATGGGGAAAAGGTAAGAAAATCTGATTCTCTAAACCCATTTCTTTCCACTGTGTGCTTATTTCAAAGGAGGCAAGACATTTTAATGGCTGGGATATTGTCTTTATTTTTGAGCTATGTTTTTTCTTTTAATGCAGTTTATTCAAATTATTATAACTCCTGCTTTACGGCTAGTAATCTGTTCTGTGGAAAAGCAAACTTTATACATCACTTATTTTTTTTCTACTTCTGAAAGCTGTCATCTAGAGCATTAGGAAATAGCTTTGTGGAGATATCACTGACATATAAAAATTGTTTATATTTAAGATACACAGCTTGATGTTCTGATATATGTATACATTGTACAATGATCACCACATTCCAGCTAATTAACCTATTTGTCACGTCTACATAGTTATCATTTGTGGGGGGTGGTGAGAAGATTTATTTTAGATCTAGCCTCTTAGCAAAATTCAAATATAAGATATAGTATTGTTAACTATCATTTTCACGCTGTACAGTAGATCTCTGGAACTTATTTATCTTGCATGACTAAGACTTTGTACCCTTTGACCAACATCACTCCATTCCTCTCTTCCCCCAGCCCCTGGGAACCACCATCCTACTCTCTGCTTTTATGAGTTTGACTATTTCAGATTCCACATATAAGTGAGATCATGCAGTATTTCTTTCTGTGTCTGGCTTATTTCACTTAGCATAATGACCTCCAGCTCCGTCTCTTTCCCTTTAAAAAATTCGATAACCTAAGCAAGTGTGTACCAATCTTGATTTCTTCTACAGAGACGTTTACTCTGAGAGTATATGTAATTTTCATTCTTGATTTATCTTGCAG
Seq C2 exon
GCATGATAGGACCCCCTGGGCCACAAGGATTTCCTGGTCTTCCTGGGCTTCCAGGAGAAGCTGGTATTCCTGGGAGACCTGATTCTGCTCCAGGAAAACCAGGGAAGCCAGGATCACCTGGCTTGCCTGGAGCACCAGGCCTGCAGGGCCTCCCAGGATCAAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081052:ENST00000396625:19
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(54.7=100),PF0139113=Collagen=PU(3.4=5.6)
A:
NA
C2:
PF0139113=Collagen=PD(40.0=46.4),PF0139113=Collagen=FE(93.2=100),PF0139113=Collagen=PU(41.3=46.4)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
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