HsaINT0034159 @ hg19
Intron Retention
Gene
ENSG00000134389 | CFHR5
Description
complement factor H-related 5 [Source:HGNC Symbol;Acc:24668]
Coordinates
chr1:196946667-196952209:+
Coord C1 exon
chr1:196946667-196946852
Coord A exon
chr1:196946853-196952014
Coord C2 exon
chr1:196952015-196952209
Length
5162 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGT
5' ss Score
11
3' ss Seq
TTTTGTGTTATTTTTCCCAGGAA
3' ss Score
9.51
Exon sequences
Seq C1 exon
ACTAAACTAGCTTCCCCTTAGTACATTGAAATTCAAAGTCATGCTTGTAACTGTTAATGAAAGCAGATTTAAAGCAACACCACCATCACTGGAGTATTTTTAGTTATATACGATTGAGACTACCAAGCATGTTGCTCTTATTCAGTGTAATCCTAATCTCATGGGTATCCACTGTTGGGGGAGAAG
Seq A exon
GTAAGTTGAAAACAGATCCGAATATTTTAGTTCCTTTTCAAATGTATTTATTGATTGTGTGTGTGTATGCATACAAATATTTTTAAATGAATAAATAGCTGAGGATAATTTGAAGGGGTATCACAATATTCATCTATTTTCTGGAAATATTTTCCAACATGCAATTAGCAGGAAAATTGAATGAAATTAATTCTCTCCGTTCTCTAGTTTGCTAAGGGTAAATGGTCACCAAATAGATAATGTAAAGAGAAATCAAAGGAGAGAAAATCTGCTATAATAAAGATGACAAGGTGAAATATTAGTGTAATTCTGCATAAACTCTGCAATGCCACTGACTAGAAAAATCAACCCCAAAAGATTTGGCCACCTTCATTATGTTTTGAGAATTTTATTTTCATAGATTTGATAATTTACATTTTAAATGTTATTAAAATGAAGGAATTCTCATTTCAGCCTAATTATCATTCAACAGGGAAATATATTTTAATGAAACAATAGAAAATATTATTTTTATATATAAACCAGTGAACTGCCAAAAAATTGTTTCTTCTGAGCTCTTCCACAAATTTCAAAAGTGAAATAATATATCACTTCTTTATTAATACTATAAACTGATTCTTATAACATTATAAACTATCCCATTTTATTTCATGTGGAAATTAAAGCCACTATATCAAAAGGATTGCAAACAAAATCTCTAACAAGGTCTAGGATACTGATTAAACTATGTGTGTACGTGAAGTTTCAATCATTGTGCTATATACTCTTTGATTTCCAGAAAGTTTTTATTTTACTGCTTTACTGCTTTCTAATGTTTACAGATCTTTAAATTTTTTGAACACTTTCTTCTCAGTCCTGACATAAGAGAAAAATATGAACCATAAAATGCTTTCTTTTTAAGATATGCCCTTACAAATGTTGCAAAACATTATTTCTATGGGCCTAAAATTCATTTTATTTTGTTTTCACTTTTAGTACTGAGCTATAATCACAAGAGTGCGATTGCATGAGTGTATTTGATTTTTCTTAAGTCTGTGTTTATGATATTTATTAAGTGGCTTAAACATCTGTTACAAATGGCATTACACAAGGATTTCTAAAGGGGGGTGGAAGCAGAGGAAGATAAGTGAAAATTATGAGGATAATATGTAGAATTTTGACAATTCCTAACCCCACAAAACTTTCAAGCTTCAGTCCAGTCCCAGGATAAACTTTAGTGAAATTCTATTAAAAGTTGTCTAGGTGTTAAATGACCTGTAAGTGTGCATTACACTTTTGTTTTGGTGTCTATTTAGAAACTGGCCAAACAGCAGAAATAACAGACGAAAGCAACACTTTTGTACAAATAGAAAACTGCATGCTTCCAGTAGCAAAACATGAATCAAGCAATATATTGTGCTTCATGCTGTAGCAAAGAAGCTGGAAAGAATATGACAACGCCACCCACCCCTCACTACTACTTAGAGTGTCCTAAAAGAAAAGCAAAATGTAAATAGGCAAATAAATTGCAAGGTTTTATATATAGGTAATTGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTACACTCATACATCACTTAATGATAGGAAAACGTTCTGAGAAGTGTGTCTATAGGCAATTTCGTCCTCCTGCAAACATCATAGAGTGTACTTACACAAACCTAGATTGTATAGCCTACTACCTAACTAAGCTATACGGCCTGTCACTCCTAGACTGCAAACCTGTACAGCATGTTACTGTACTGAATACTGTGGGCAACTGTAGCACAAATGTAAGAATGTGTTTACCTAAACATATAAAAGGTACAATAAAAATACAATATAAAATATTAAGAATGGCAGACTTGTATAGGGCTCTTACCGTCAATAGGGTTTGCAGGACTGAAAGTTGTTCTGGGTAAGTCACTGAGTGAGTGGTGTGCAAATATGAAGGCTTAGCACATTACCATACACTACTGTAAACTTCATGAACACTGAATACTTGAGCTAGGTAAATTTATTTTATTTATATATTTATTTCAATATTTTGGGGGGAGCAGGTGGTTTTTGGTTACATGGATAAGTTCTTTAGTGCTAATTACTGAGCTTCTGGTGCACCCAGGATAGACTAAATTTATTTTTAAAACTTTTCTTCAATAATAAATTAATTTATGATAAGCTTTCTACTTTATCAACTGAAAATCTTTTAACTTGTAACTCTTTTGTTTTAGCTTAAAACACACCTTGTATAGATGTACAAAATATTTTTTCTTTCTATCCTTATTCTGTAAGATTTTTATCTTTTAAATTATTTATTTATTTACCTTCTACACCTTTTTGTTAAAAGCAGACACAAACACACACATTAACCTCGGCCTACGGAGGGTCAGGATCATCAGTATCACTGTCTTCCTCCTCACTCTTGTTCCACTAGAAGGTCTTTAGGGCAGTAACATGCATGGAGCTGTCCTCTCCTATGATAACAAAGCCTTCTTCTGGAATAGTTCCTGAAGGACCCGCCTGAGGATGTTTTACAGTTATTTTTTTTTAATAAGTAGAAGAAGTGAACTATAAAATAATGATAACAACTATAGTACATTAAATACATTAACCAGTACCATGGTCATTTATTATCATTATCAAGTATTGTGTACTATACATAATTGTGTGTGCTATTGTTTATATGACTGGCAATGCTGTAAGTTTGTTTATACCAGCACTGCCACAAACATGTGAGTAATACATTGGATTATGATGTTGTGGTGGTCATCAGTTGATAGGAATTTTTCAGCTACATTATAATCTTATGGGACCACTGTGATATAAGTGATCAGTCATTGACCAAAACGTCATTATGTGGTAAATGACTGTATGTCTGTATATATACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATCCCAGAAGAAATATATTCACAGTATTCTATCAGAATGTCGAGACAAGGAAAATTATTTTCTGCTTTTGGAGTGGGTTGTTGTGTAACGGCAGGCTTGCCAAAGGACGATAACACTCCTAGCACCATTGCGGATGTGCACAATGGTTATACGATGAATGTTGTAGAGCAAGTTCTAAAGGATAGGTAGAATACAACTGGATGGTGAGAACTAAGTTATTCTGGATAGCGAAGAATATGTAAGTACATATGCATGAAAATCAAGTACTATAATTTTGCAATTTTCAAAAAGTAAATGATATTTAAAAGGAGTTATGATAGGTTAATACTATCAAGACACGAGGGAGTCTTTCCCTCAGTATCTTCTCCAAAACTATCTAATGTCAATTTTTAAACAGTTAGGTAATAAATTTAAGGTTTCACAAGGTTAAATACCACAAGAATTATTTCAAATATTGTGCAACATTAAATATTACTTCTAGGTAGTTAAAAAAGAGAAATTTCCCTTGATTTGTCAGCTGAATTTCTGCATGCTTTTTCTAAATAAGGTGAAAAACAAAACAATTTCTTATGCAGCAATGCTATATTCAGGAAATATCTTGAGCTAAAAAATGAGCACACTATATTGAGGAAATATCTCGAGCTAAAACAGCATTCAAAGATAAAGTACATCAAATCCATAGAATGTACAATATCAAGAGTAAACCCTAATGTAAACTATGGGCTTTAATGACAATAATACTGATAGTGAAGGGGGCTATTCATGTGGCAGGGAAGAGGAAGTGGTATATAGGAAATCTCTGTACCTTCCACTCAATTTTACAGTAAAAAAACTGTAAATAAAAAATTAAGTCTAATAAAAAATATGTGTATATATAAATATATATATACACAAGAAAAAATAGAGTCAAAACATGAATATTTCACCCATTTTCTACATTGTTTTACCATATCTTGCACCATAGTGCATATGGATGTATGTGTGAGTGTCTATATAAATATATCCAGTAGTATCCTCAGTATCATTAGTATCCTTAAGGAATTGTTCCAGGACTCTTTTCACCCCCAGCAGATACCAAAATCCACAGATGCTCAAGTCTCTAAGAGAGAATGGCGTAGTATTTGCATATAACATATGCACATCCTCTCATATAATTTAAATCATCTCTAGATTATTTATAATATCTAACATAATGTAAATACTATATAAATAATTGTTATATTGTATTTTTAATTGCATTGTTTTTATTGTTTTATTATCTTTTTATTGTTTTTTCTTTTTCAGATATTTTGGACTTGCAGTATAATAAACATTTATGTATACAGCATTTACCAGAATTTAGCTCTAATTTTATCTCGGTTGAGTTGTTCTTAGTGATTTTCTTATACTCTTTAAATTATTTCCACTGAAACCACATAAACTTTGTAACCAGAAAGTAATCAGAATATTAATAAACAAAAAATCAAATTACCTACCCAACATTTTTACTGCACCAGAAAAAAAAATAGGACAGATTTTTCTGGTGGAAATACCTATGACAGTTGATGAGAATAGAAAAAGAAATAAATCTGAGAGCTGAGAACAATCCTATCACTCCTCTACTGTACACTACATAGACCAGGGAGATTTGCTACTCTTACAGTCTGCCTTCATTCTTAAATTGTTGTGTGAGGATATTGTTCTTGAAGACATTGCAGAAGAGTTCATATTTCATATCATTCCAAAATATAAATTTTATATTCATTAACAATGACCTCGTCGGTCCGGCATGGTGGTTCATGCCTGTAATCCCGGCAGTTTGGGAGGCCGAGGCGCATGGATCACCTGAGGTCAGGAGTTTGACACCAGTCTGGCCAATATGGTGAAACCTTGTCTCTACCAAAAATACAAAAAATTAGTCAGGTGTGGTGGCAGGCACCTGTAATCTCAGGTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGTGGAGGCTGCAGTGAGCCAAGATTTGCGTGATTGTACTTCAGCCTGGGCAACAAGAGTAAAACCTGAAACTCCCTCTCAAAAAAAAAAAGATCTCCTCAAATACTCTTCTATTCTTATTTAGGGATCTTTCTTCATTCCAAATTAGTACACTGGAAAGCATTTAAGCTAAAGGCATTTAAGCTGAATGAAAAACAAAACTATAAATGAGATGACTAAAATATAATCTAGTGATTCATCGATGTAGCTCTTTATTTAATTCTTCAGTTTTGTGTTATTTTTCCCAG
Seq C2 exon
GAACACTTTGTGATTTTCCAAAAATACACCATGGATTTCTGTATGATGAAGAAGATTATAACCCTTTTTCCCAAGTTCCTACAGGGGAAGTTTTCTATTACTCCTGTGAATATAATTTTGTGTCTCCTTCAAAATCCTTTTGGACTCGCATAACATGCACAGAAGAAGGATGGTCACCAACACCGAAGTGTCTCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134389-CFHR5:NM_030787:1
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0008415=Sushi=WD(100=92.4)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
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)