Special

HsaINT0039108 @ hg19

Intron Retention

Gene
ENSG00000081052 | COL4A4
Description
collagen, type IV, alpha 4 [Source:HGNC Symbol;Acc:2206]
Coordinates
chr2:227914784-227915874:-
Coord C1 exon
chr2:227915693-227915874
Coord A exon
chr2:227914848-227915692
Coord C2 exon
chr2:227914784-227914847
Length
845 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
3' ss Seq
TTGTTTCATTAAACTGTCAGGGT
3' ss Score
3.83
Exon sequences
Seq C1 exon
GTGATAAAGGAACTCCCGGGATGCAAGGGAGAAGAGGAGAGCCGGGAAGATACGGACCACCTGGATTTCACAGAGGGGAACCTGGTGAGAAAGGTCAGCCAGGGCCTCCTGGACCCCCAGGCCCTCCAGGCTCAACTGGTCTAAGAGGGTTCATTGGTTTTCCAGGACTTCCAGGTGACCAG
Seq A exon
GTAAGGGGCTACTGCTTTGTGGGGGAAGAGACAATAAAACCTTTCTGTTCTTAGGATGTCCGTAAGGAGCTATAATTTGCCAGCGTATATACCATTGCCCTTTCACTGGCTTTTAGAATGTAAGGTGTAGCTCAAGGAGAAAATAGAGCCTTCTAGAAGGCCACGATGAAACTGACATTTCTGACCAGTGCTCCTGCCTGGTTCCCCTAACATAGAGTCATATAATCGCTATCTCCCAGCCTGGTTTAAACCACCCATGAAGACTTGCCTCATGACCACTGGTTTACTGGAATGAAAGTCGTCCTGAAAAATCACCCAAATCCTGTCTTTAAAGTCTTCCAGTTTCAGATATCACAGATTTTGCTTTCAATATATTTCGTCTTCACAACCATGAGTAAAATACCCTTTCAGAATCCAGGAGGTACAATACATGTAGTTGCCAACATTATACTTCTGGAAAACACGTAACTCACTATCCATCTTTTGGAATGAAATGGATTTGTAAAGTCTTTCATATGCTGTGATTTATAATACTATTTTATTTAGTATCAACTTGTTTATTTGTAATTTAAAATTCAAATTAGTAACACAATTACTGTTTCACAACCAAGTGTAGAGAATGGGATGCTACCAGTTGCGACTGAGAACTCTAATTCTGGAGAAGCTATATCAACTTTGAAAAACTAGATACATGTAGTGGGAGGCTTGCATGCATTTAAACTTTCGTTACCACTGCAGATTACAAAAACCAAATTAGTTACAGAAAATTACAACTGGATCGTGTTGTGCATGTGCCATTTGTATTTGAAATCTGATTAAGGCCTTTTGTTTCATTAAACTGTCAG
Seq C2 exon
GGTGAGCCAGGTTCTCCAGGTCCCCCTGGATTTTCAGGAATTGATGGAGCAAGAGGACCTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081052-COL4A4:NM_000092:33
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(63.9=63.9),PF0139113=Collagen=PU(53.0=57.4)
A:
NA
C2:
PF0139113=Collagen=FE(31.8=100)


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:
GTGATAAAGGAACTCCCGGGA
R:
CTTTAGGTCCTCTTGCTCCATCA
Band lengths:
246-1091
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