Special

HsaINT0039110 @ hg19

Intron Retention

Gene
ENSG00000081052 | COL4A4
Description
collagen, type IV, alpha 4 [Source:HGNC Symbol;Acc:2206]
Coordinates
chr2:227907793-227912265:-
Coord C1 exon
chr2:227912191-227912265
Coord A exon
chr2:227907901-227912190
Coord C2 exon
chr2:227907793-227907900
Length
4290 bp
Sequences
Splice sites
5' ss Seq
CAGGTATAG
5' ss Score
8.73
3' ss Seq
TTTGATCTTTCCTTCTTTAGGGC
3' ss Score
11.69
Exon sequences
Seq C1 exon
GAAACAAAGGTGACCCTGCCAGTCACTTTGGTCCACCTGGTCCAAAGGGTGAGCCAGGTAGCCCTGGATGTCCAG
Seq A exon
GTATAGCTGCATATTTTTCTTACTAAAACAAAAAAAGTAGTTTAGTTTGAAAAGCAGAACAATTACTTCTAGCTGGCAATGATCGTATCAATATTTTCTTACCCCTTTGTGCATTAAGGTATAGATAAAACGGGTTATATATAAACACTTCCATAGCATTTCTTGCCTGGCCTAGAAGAACACCAGGGTTACATACTAGGGATTCACAATCATTTTTCCATCATGGCTCATGTGACCGATGATGTTGACACAATAATAAACTCCCCAGGCATGCCCATATTTTGGCAAACTCAAAAATGAATATTGCAAACAATTAAAATCTGGACCATTTTGCACCCTCTATCATTTAAAATGATGCATTCGCAATAACCACTCACAATGACTACAGCTGCAGGTTGTCATTCCAGCTCTTTCTTTCTACTGAGAAAAGCACATGCCAGTGTAAGTGGTGCGCCATTGTTGAGCCATCATTGAATCTATTTTAATTTACTAAAAATCAAACCAAATCAAGCAAACATAAACCTCATCACCAACAAGAAATCTAAGTCATTTTAAACAGTATTTTGCTTCTCAATAATAATTTAACATGGAATCCTTCAGAATGGATTGTGATGCACCATTGAGTTCTTGTGACAGTTGAGGCCACAACTGGCTACATTAGATGACCCACAGCAGAAGGGGGGTGCCAGTGTTATGCACAGCTCCATGCTTTACAGGGAAAGGGAAACCATTTGAGTTCAAGCCGACAGAACAGGACCCCTAGAGGGGAAAGCAGCCTTAGGACAGAATGTTCTATTGGTTTAACTCATATATGTTTACATTTCAGAAAATGTTGCAGATATTAATTGGTACTCCCTTTCTGGACCCTATAGAAATGCACCAATATTTAAAATATGCATATCGCTTGACTTAGGAATTCTCTTAGGAATTTATCTGGAGTCAGTAATCAGACAAGTGTACAAAGATGCATGCCCAGGAATATGCGTTGTTTGAATGGAACAAATGTCCATTCACAGATGCCTGGTTAAATAAGTTATATCCCAGGGCACTCAGCCAATAGTGGTCAGGTTAGAAACCAGGTTTGTGTTTAGATGGGTACCTTGTAAATTAAAACACCTCATATCAATAATTTTGTGCATTATCTTAAAATTCCATCTGGCAATAGCTGTGTTTCATTTCATACAACAGAAAGAATATTAGATATTTTCTGAGCAGAACTATATGAGAAATTTTATTTTCTTTGTTTTTATACTGTAAGATTGCTAAAATGGAAGTCTAACAAAAACAAGTTAATACAGTGGCACAAACTACCTTTCCCACCTTCTTTGCTATGGGTCTTTCACCTCTGACATGAACAAATATATTTAGATATATATATATGTACATATATATCTAAATATATATATGTATATATGTTTAGATAGTATATATGTATATATGTATACATATATACATATATACTATCTAAATATATCTAAATATCTAAATATATACATATACACATATAAATATATACATATATACATATATACATATATACATATATACATATACATATACATACATATATATACTATCTAAATATATATACATATATATGTATATATATGTGTATATATATATGTGTATATATATATGTGTGTATATATATATATGTGTATATATATATATATGTGTATATATATATATATGTATTTTTTTTTTTTGAGATGGAGTCTTGCTGTTTCACCCAGGCTGGAGTGGAGTGGCACAATCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGCAATTCTCCCACCTTAGCCTCCCAAGTAGCTGGGACTACAGGTGTGCACCACCACACCAGCTGATTTTTGTATTTTTGGTAGAGACAGAGTTTTGTCATGTTGGCTAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTTGGCTTCCCAAACTGCTTGGATTACAGGTGTGAGGCACTGTGCCCGGCCTAGACATAGTATAATATTTTAACTGAACTGTATAACTGAAGTATACATTTGATAGGGAAAATAGTTTTGAGGTCAGCATTATGGGAGTTCATGACAAATATCAAAGTGAGAAGCCTCAGAAGGGAAAAATCGGTGGCTCAAAGTCAACCTCCATTATTACTTCACCTGTGGTCTTGGGTAAGCTGAGAGTATCTTCTCTGAGCGTAGTTGCCTCACCTGTAAACTGGCCCTATGCATACTGCAGGATTGTCCTGAGGATCAAATGAAAGAAACTGAAACTGAAAATAACTATACAAAATAAAATGCAATGATCATCATTGTCATCATCACCATCATCAGTCAGCAAAACATGAAGACATTTTCCCATACTTACTGGTATTTTTATGTAAACCCCAAAGATAGGAAGATTTCATAAGCTCAGGGTAGTCCAAAATGGGGGCCTGTGATGTTACCTAGTATTTTAACTTAAAAATCATAAACCTGAGTGATTTTACACTTAGGCTGACTTTTTCAGAAAGTTTGCCTTGGCCAAATTTGCCTGTTCTCCTGTGGTTACCACCATTTAAATTGGCCCCTTTCCCATATGCCATGGCCTCAGCTTAGAAATTTTAAATTGTATTATATGTTATTCACTAGCACAGAGTTTACTTAATACACTATTTCCATTGACTGGAGAAGGCTTCATTGAACTTGAATGAGCATCATGAGAAGGCATGAATCTGCAGCTGGTCTTGGGATTATATGTGATTATCCTGGGTTCAGTCCTACCTACTCTGCACTCTATTCAGAGAGAAAATATAGTGCAAATTAACTCAGAAGTTCTGTTCTTAACACAACCCCACAAAATTCAGGAGACAAGTTTTTATTTTTAATATTTCAGTGTTTTCATTTGTAGATGAGAATAATGCTACTTTACTGTAGGAATGTTTTCAGGATAAATAAGATAATACATAGTGAGACTAATAGATGTTAAATTCAATCAGGGAACAGGTACAGACTAACAAAAGCTTGTTTCCTGTGTGCTATAATAAATGATGACTATAGCCCCCCCAGCATGGTTTGTAAATACAGAGACATATATTTTATGTGCAGATTCAACCAGTGATTTTCAGCACACACTATTGGTTTATCCCATAAACGTGCATTAAACTCATACATTGTAAATAAACACACGGGGAAATAGTCATCCTCTTTAGTAATCAAAGAAATGTAATTTCAAGTGTCTGAAATATCATTTTATCTTTAATAAATTAGCAAGAAAAGAGGCCAAAAAACTAAAATGTCCTCAGTAAGAACACGGCATGCTCTTGGAGCTGTGGGTGGGTTCCATATGGTGGTGTGAGTCAGTGCAGCACTTACTCCAAACTACTGGCAACCTGTATCAAGAACCAAATGTTGAATGGTCTGTTCTAGAAAACTAGAGAAGAACTGAATTGTGCTCTGCAGCAAGTCACTGTCATAAGAAAAGGACTGCTTTAAATTTTTAGAAATTGAAGAGACCTATCCATTAGATGTTATGGGTGATTCTGGGATGGAACGTGGTGTGGAGAAACCAACTGTGAAGGACATTAAGGGGATAATTGGGGGGATTCAAGTATGGGATGAGTGTTTGAGGGTATTAAGAATTGCTATTAATTTTCTTGGCTGCGAAATGTTATTTTGGCAATGTAGAAAAACGTTCTTATTTTTCAGACTTCTTACCTCCTGAAGTATTTAGGGATGGAATTACACTACGGTGTGATGTACTTTAAAATACTTCAGCATTTAAAATGCATTTGAAAATACCAAAATATCATGCTATTTATCCAGAAATTCTACTCCTAGGAATTTTTCCTAAGGAAACAATTTAATAGGAGAAACAAAATTGACAAGAGATATAAAGAGCATTATGGATAACGGCAGAGTTAGAGATAACTTAAATGGCCAATAGTAAAATAAATTGAATTAGTTAATTTAATTAAGATTGACTCAAAAAGCTACTGGCCATTCATTTAAAAATGATAATTAGGAAAACCAATATAAACTTGGAAAATTACTTATGATACAACACTAATTTTAAAAACCAGAATATAAAATTGTGGGTATTATCTGTACATGTATGTACATATGAAGAATTGTGTTAAGCTGGTGGGATTATGGGCATTTTGTTATCAGTTTTTCCTTAACGTTATTTTCCTTTCCAATAGAAACTATTTAAAACTAAAAAAGTAAGGATAGAAAAGAATAGGGTGGGCTGAACTTGGTGATTTTAAAGATTCACTGTCTCAAACGGCAACTCTGATGTTTGATCTTTCCTTCTTTAG
Seq C2 exon
GGCATTTTGGAGCATCCGGAGAGCAGGGCTTGCCTGGTATTCAAGGGCCCAGAGGATCACCTGGAAGGCCAGGGCCACCTGGCTCCTCTGGACCACCAGGGTGCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081052-COL4A4:NM_000092:35
Average complexity
IR-S
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(12.1=30.8),PF0139113=Collagen=PU(25.0=57.7)
A:
NA
C2:
PF0139113=Collagen=FE(60.0=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
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

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development