HsaINT0034127 @ hg38
Intron Retention
Gene
ENSG00000000971 | CFH
Description
complement factor H [Source:HGNC Symbol;Acc:HGNC:4883]
Coordinates
chr1:196740619-196742051:+
Coord C1 exon
chr1:196740619-196740792
Coord A exon
chr1:196740793-196741874
Coord C2 exon
chr1:196741875-196742051
Length
1082 bp
Sequences
Splice sites
5' ss Seq
TAAGTATGG
5' ss Score
1.55
3' ss Seq
ACATATTTTTCCTATTTCAGAAA
3' ss Score
9.74
Exon sequences
Seq C1 exon
GCCTTCCTTGTAAATCTCCACCTGAGATTTCTCATGGTGTTGTAGCTCACATGTCAGACAGTTATCAGTATGGAGAAGAAGTTACGTACAAATGTTTTGAAGGTTTTGGAATTGATGGGCCTGCAATTGCAAAATGCTTAGGAGAAAAATGGTCTCACCCTCCATCATGCATAA
Seq A exon
GTATGGTGCATTGAATTTTATTATATGTATGATAAATATTCTTCATTCAAAGTGTAAGTGGTACCAATAAGAAAGTAAACAGGGACTCTAGAAATTCATAAGGTTTTCTTGAATATTCTGGACTGCTGTGGGAAATTATAGCTGTAGTAATTAAAACATTTGACATTATAAGCCAAATTAGTTCATTTTCACATCATCTTGTGTGAACTTTAAGCATCCTCTGATGTATATTCTCAGACTTCTCATCTCTGTTCTTAGGGCACAGCTGCCTCTACTCATCAATCTCCACATTATTCAATCTTCTGTCAGTTTATCAACAATCTGCCTATAAGTACATTTTCTGAAATATTTTAAAAAATCATTATAAGTATTTCACATTTGATAGAAGCAAAAAATTTGGAAATGCACACACAATATAGGTGGTGTATTATTCCGTTTTCACACTGCTGTAAAGACCTTCCTGAGACTGGGTAATTTATAAAAGAAAAAATTTTAATTGATCACAGTTCCTCATGACTGAGGAGGTGTCATGAAACTTACCATTACCGCTGAAGGGGAAGCAGGCACCTTCTTCACAAGGTGGCAGGAGAGAGAGGAGTGAGTGAAGGAGGAACTTCTAAACAGTTATTAAATCATCATATCTTGTGAGAACTCACTCACCATCGTGAGAACAGCATGTGGGAAACTGCCACCATGATCCAATCACTTCCCACCAGGTCTCTCTCTCAACACCTGGAGATTATTATTCAAGATGAGATTTGGGTGAGGACACAAAGCCTAACCATATCAGGTGGCAAGTATGGACAAAAATAATGTGAACAAAAAAATGTGTAATCTCAATTGCTACGGCTACCAATATTTCTTCAGTCTTCTAATATCATTTCTATCTTGTATTTTTAATAGATTTAGAAGAATTTAATGTAATTAAGACAAAATGGCTAATATATTTTCTCAAGTTATAAGAAAAATGTTGTACAGTATTCATTGATTCTATATATCGCTATTTTAGAATCCATTACATGTATTGTATGTAACCTATTTTTAAAGATTTGCGGAACAAATACATATTTTTCCTATTTCAG
Seq C2 exon
AAACAGATTGTCTCAGTTTACCTAGCTTTGAAAATGCCATACCCATGGGAGAGAAGAAGGATGTGTATAAGGCGGGTGAGCAAGTGACTTACACTTGTGCAACATATTACAAAATGGATGGAGCCAGTAATGTAACATGCATTAATAGCAGATGGACAGGAAGGCCAACATGCAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000000971:ENST00000367429:18
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=91.5)
A:
NA
C2:
PF0008415=Sushi=WD(100=91.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCTTCCTTGTAAATCTCCACCT
R:
GTTGGCCTTCCTGTCCATCTG
Band lengths:
343-1425
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