HsaINT0034126 @ hg19
Intron Retention
Gene
ENSG00000000971 | CFH
Description
complement factor H [Source:HGNC Symbol;Acc:4883]
Coordinates
chr1:196706605-196709922:+
Coord C1 exon
chr1:196706605-196706790
Coord A exon
chr1:196706791-196709748
Coord C2 exon
chr1:196709749-196709922
Length
2958 bp
Sequences
Splice sites
5' ss Seq
AAGGTTAGG
5' ss Score
6.06
3' ss Seq
ATTCATTCTTTTTTTTTTAGGCC
3' ss Score
9.59
Exon sequences
Seq C1 exon
AAAAAATTCCATGTTCACAACCACCTCAGATAGAACACGGAACCATTAATTCATCCAGGTCTTCACAAGAAAGTTATGCACATGGGACTAAATTGAGTTATACTTGTGAGGGTGGTTTCAGGATATCTGAAGAAAATGAAACAACATGCTACATGGGAAAATGGAGTTCTCCACCTCAGTGTGAAG
Seq A exon
GTTAGGCCAATATGAATACTCAATTTCTGTTTATAGTAGAATTCATAAAAATAATCTCTTGTTATCAAAGTGAGGGGAATAATTGAGATTACTGCATATATAAAATAATTTATATATTATACCATTAAAATACTTTTTGCATGATTGAATCTATTCTATTTATGTTAATTTTATTTGTTCATGATAGAGTCACTTTGTATTCTGGCATTAAAAAATAATATCTAGTGAAATTAAACCTATCTGTATTATTCTCATGCTGCCATAAAGAACTGCCCAATACTGGATAATTTATACATACAAAAAAAGGTTTAATTGGCTCACTGTTCTGCATGGCTGAGGAGGTCTTAGGAAACTTACAATCATGGTGGAGGGAGAAGCAAACGCATGAAGACAGGAAGGAGAAGTTCTGACCAAAGGGAAAAGGCCCTTATAAAACCATTAGATCTCATGAAAACACACTCACTATCCTGAGAACAGAAGCATGGGGATAACTGCCCCCATTATTCAACTACTTCCTACTGAGTCCCTCCCACAAAACATGGAGATTATGGGAAGTACAATTCAAATTGTTATTTGGTTGGAGATACAGTCAAATCCTATCATTCCACCATGGCCTATCCCAAGTCTATGTCCTCACAATTCAAAACACAATCATGCCTTCCCAACAGTCCTCCAAATCTTAACTTATTCCAGCATTAACTCAAAAGTTCATATCCAAAGTCTCATCTGAGACAAGGCAAGTCCTCTCTGCTTATGAGCCTGTAAAATCAAAAGCAAGTTGGTTATTTCCTAGACACAATGGGGGTACAGGGATTGGGTAAATGCTTCCATTCCAAAAGGGAGGAAATGGCTGAAACAAAGTGGCTATATGCTTGATGGAAGTCTGAAATTTAATAGGGCAGTCATTAAACCTTAAATTTCCAAGATTATCTCCTTTGACTCCATGTCTCACATTCAGGTCATGCTGATGCAAGAGATGGGCTCCCACAGCCTTGTGCAGATGTGGCTTTGTCCCCCTCCTGGTTGCTTTCATGGGCTGGCATTGAGTGTCTGTGGCTTTTCCAGGAACATAGTGCAAGCTATTGATGGATCTACCATTCTGGGGCTTCAATGATTGTGGTCCTGTTCTCACAGCTCCACAAGGCAGTGCCTCAGTGGGGACTCTATGTGAGGGCTCTGACCCCACATTTCCTTTCCTCAATGGCCTAGCAGAGGTTCTCCATGTGGGCTCCCCCCTGCAGCAAACTTCTGCCTGGACATCCAGGTATTTTCATATATCCTCTGCAACCTAGTTGTAGGTTCCCAAACCTCAATTCTTGACTTGTGTGCACCCACAGGCCCAAGACTACATGTAATCCACCAAGGCTTGGGGTTTCACCCTTTGAGGCAATGGACCAAGCTGTTTGTTGGCCCCTTTTAGCCACAGCTGGAGCTGAAGCAGCTGGGATACAGTCCTGAGGCTGCATAGAGCAGCAGGGACCTGATCCAGGTCCATCAAACCATTTTTCCCTCCTGGGCTTCTGGGCCTGTGATGGGTGGGGGTGTCATGAAGGCCTCTGACATGCCCCGGAGATATATTCCCCATTGTCTTGGTGATTAACTTTGGCTCCTTATTATTTTTGCAAATTTCTGCAGCAGGCTTGAATTTCTCCCCAGAAAAATGAAGTTTTATTTTCTATTGCATTTACAAGCTGCACATTTTCCAAACTTTTATGCTCTGCTTCCTCTTGAGCTCTTTGCCACTTAGAAGTTTATTCTGCCAGATACCCTAAATCATCTCTCTCAAGTTCAAAGTTCCACAGATCTCTAAGGCAGGGCAATATGCCACCAGTCTCTTTGCATAGCAGGAGTGACCTTTACTCCAGTTTCAAACAAGTTCCTCACCTCATCTTCATCTGTGACCACCCCATCCTGGACTTCATTGTCCATATCACTGTGAGTATTTTGGTCAAAGCCATTCAACAAGCCTCTAGGAAGTGCCAAACTTTCCCACATCTTGTCTTCTGAGCCGTCCAACTCCCTAGGAAGTTCCAAACATTTTAACATTCTCCTGTCTTCTTCTGACCCCTCCAAATGGTTCTAACCCCTGCCTGTTATCCAGTTCCAAAGCTGCTTCCACATTTTTGGTTATCTTTACAGCAGCACCCTACTCTCTGCAGTACCAATTTACTGTATTAGTCTGTTATCATGCTGCTATAAAGAACTACCCAAGACTGCATAATTTATAAAGGAAAGAGGTGTAATTGACTCACAATTCCACATGGCTGGGAGGCCTCAGGAAACTTACAACCCTGGTGGAAGGGTAAGCAAACATGTCCTTCTTCACATGATGACAGGAAGGAGAAGTGCAAAGCAAAGACAGAAAAGCTCCTTATAAAACCATCAGATCTCAGGAGAACTCACGCAGTATCATGAGAACAGCAGCAGAGGAAAAATCGCCCTCATGATTCAATTTTCTCCCACCAGGTCCCATCCACAACACGTGAGGATTATGGCAATTGCAATTCACGATGAGATTTGGGTGGGGACACAGCTAAACCTGTTCTGCAAGTTGTCATGTTTGCTTTGCCACTATGTTTTAAAACTTCTTTTACATTCTTCCCACAATGCCCCTTCTTATTTCCTACAATATATTATGTTTTACCTGGAATCGTTAACTCTCAATGTGTATCTTATTATCACTAGTAAGTTTACAGAGGCATTGTTTACCAGGCATAGATGATCTCTTTCTGAAATGTATTGCTATTTTTAGTTTCAAGTCCTTCTTCAGTTGGTGACAGTCCGATAGACAGACAGACACCAGAAGGCTAGTTTTAGGAAACATTTGTGTTACTTCTCTGTGATGTCATAGTAGCTCCTGTATTGTTTATTTTCAAATAAAACTACTTAATATTAAAACAGGCATATAAAATTAAATTTATGAGTTAGTGAAACCTGAATTCATTCTTTTTTTTTTAG
Seq C2 exon
GCCTTCCTTGTAAATCTCCACCTGAGATTTCTCATGGTGTTGTAGCTCACATGTCAGACAGTTATCAGTATGGAGAAGAAGTTACGTACAAATGTTTTGAAGGTTTTGGAATTGATGGGCCTGCAATTGCAAAATGCTTAGGAGAAAAATGGTCTCACCCTCCATCATGCATAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000000971-CFH:NM_000186:17
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.190 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=90.5)
A:
NA
C2:
PF0008415=Sushi=WD(100=91.5)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)