HsaINT0034159 @ hg38
Intron Retention
Gene
ENSG00000134389 | CFHR5
Description
complement factor H related 5 [Source:HGNC Symbol;Acc:HGNC:24668]
Coordinates
chr1:196977556-196983079:+
Coord C1 exon
chr1:196977556-196977722
Coord A exon
chr1:196977723-196982884
Coord C2 exon
chr1:196982885-196983079
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
AGTACATTGAAATTCAAAGTCATGCTTGTAACTGTTAATGAAAGCAGATTTAAAGCAACACCACCATCACTGGAGTATTTTTAGTTATATACGATTGAGACTACCAAGCATGTTGCTCTTATTCAGTGTAATCCTAATCTCATGGGTATCCACTGTTGGGGGAGAAG
Seq A exon
GTAAGTTGAAAACAGATCCGAATATTTTAGTTCCTTTTCAAATGTATTTATTGATTGTGTGTGTGTATGCATACAAATATTTTTAAATGAATAAATAGCTGAGGATAATTTGAAGGGGTATCACAATATTCATCTATTTTCTGGAAATATTTTCCAACATGCAATTAGCAGGAAAATTGAATGAAATTAATTCTCTCCGTTCTCTAGTTTGCTAAGGGTAAATGGTCACCAAATAGATAATGTAAAGAGAAATCAAAGGAGAGAAAATCTGCTATAATAAAGATGACAAGGTGAAATATTAGTGTAATTCTGCATAAACTCTGCAATGCCACTGACTAGAAAAATCAACCCCAAAAGATTTGGCCACCTTCATTATGTTTTGAGAATTTTATTTTCATAGATTTGATAATTTACATTTTAAATGTTATTAAAATGAAGGAATTCTCATTTCAGCCTAATTATCATTCAACAGGGAAATATATTTTAATGAAACAATAGAAAATATTATTTTTATATATAAACCAGTGAACTGCCAAAAAATTGTTTCTTCTGAGCTCTTCCACAAATTTCAAAAGTGAAATAATATATCACTTCTTTATTAATACTATAAACTGATTCTTATAACATTATAAACTATCCCATTTTATTTCATGTGGAAATTAAAGCCACTATATCAAAAGGATTGCAAACAAAATCTCTAACAAGGTCTAGGATACTGATTAAACTATGTGTGTACGTGAAGTTTCAATCATTGTGCTATATACTCTTTGATTTCCAGAAAGTTTTTATTTTACTGCTTTACTGCTTTCTAATGTTTACAGATCTTTAAATTTTTTGAACACTTTCTTCTCAGTCCTGACATAAGAGAAAAATATGAACCATAAAATGCTTTCTTTTTAAGATATGCCCTTACAAATGTTGCAAAACATTATTTCTATGGGCCTAAAATTCATTTTATTTTGTTTTCACTTTTAGTACTGAGCTATAATCACAAGAGTGCGATTGCATGAGTGTATTTGATTTTTCTTAAGTCTGTGTTTATGATATTTATTAAGTGGCTTAAACATCTGTTACAAATGGCATTACACAAGGATTTCTAAAGGGGGGTGGAAGCAGAGGAAGATAAGTGAAAATTATGAGGATAATATGTAGAATTTTGACAATTCCTAACCCCACAAAACTTTCAAGCTTCAGTCCAGTCCCAGGATAAACTTTAGTGAAATTCTATTAAAAGTTGTCTAGGTGTTAAATGACCTGTAAGTGTGCATTACACTTTTGTTTTGGTGTCTATTTAGAAACTGGCCAAACAGCAGAAATAACAGACGAAAGCAACACTTTTGTACAAATAGAAAACTGCATGCTTCCAGTAGCAAAACATGAATCAAGCAATATATTGTGCTTCATGCTGTAGCAAAGAAGCTGGAAAGAATATGACAACGCCACCCACCCCTCACTACTACTTAGAGTGTCCTAAAAGAAAAGCAAAATGTAAATAGGCAAATAAATTGCAAGGTTTTATATATAGGTAATTGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTACACTCATACATCACTTAATGATAGGAAAACGTTCTGAGAAGTGTGTCTATAGGCAATTTCGTCCTCCTGCAAACATCATAGAGTGTACTTACACAAACCTAGATTGTATAGCCTACTACCTAACTAAGCTATACGGCCTGTCACTCCTAGACTGCAAACCTGTACAGCATGTTACTGTACTGAATACTGTGGGCAACTGTAGCACAAATGTAAGAATGTGTTTACCTAAACATATAAAAGGTACAATAAAAATACAATATAAAATATTAAGAATGGCAGACTTGTATAGGGCTCTTACCGTCAATAGGGTTTGCAGGACTGAAAGTTGTTCTGGGTAAGTCACTGAGTGAGTGGTGTGCAAATATGAAGGCTTAGCACATTACCATACACTACTGTAAACTTCATGAACACTGAATACTTGAGCTAGGTAAATTTATTTTATTTATATATTTATTTCAATATTTTGGGGGGAGCAGGTGGTTTTTGGTTACATGGATAAGTTCTTTAGTGCTAATTACTGAGCTTCTGGTGCACCCAGGATAGACTAAATTTATTTTTAAAACTTTTCTTCAATAATAAATTAATTTATGATAAGCTTTCTACTTTATCAACTGAAAATCTTTTAACTTGTAACTCTTTTGTTTTAGCTTAAAACACACCTTGTATAGATGTACAAAATATTTTTTCTTTCTATCCTTATTCTGTAAGATTTTTATCTTTTAAATTATTTATTTATTTACCTTCTACACCTTTTTGTTAAAAGCAGACACAAACACACACATTAACCTCGGCCTACGGAGGGTCAGGATCATCAGTATCACTGTCTTCCTCCTCACTCTTGTTCCACTAGAAGGTCTTTAGGGCAGTAACATGCATGGAGCTGTCCTCTCCTATGATAACAAAGCCTTCTTCTGGAATAGTTCCTGAAGGACCCGCCTGAGGATGTTTTACAGTTATTTTTTTTTAATAAGTAGAAGAAGTGAACTATAAAATAATGATAACAACTATAGTACATTAAATACATTAACCAGTACCATGGTCATTTATTATCATTATCAAGTATTGTGTACTATACATAATTGTGTGTGCTATTGTTTATATGACTGGCAATGCTGTAAGTTTGTTTATACCAGCACTGCCACAAACATGTGAGTAATACATTGGATTATGATGTTGTGGTGGTCATCAGTTGATAGGAATTTTTCAGCTACATTATAATCTTATGGGACCACTGTGATATAAGTGATCAGTCATTGACCAAAACGTCATTATGTGGTAAATGACTGTATGTCTGTATATATACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATCCCAGAAGAAATATATTCACAGTATTCTATCAGAATGTCGAGACAAGGAAAATTATTTTCTGCTTTTGGAGTGGGTTGTTGTGTAACGGCAGGCTTGCCAAAGGACGATAACACTCCTAGCACCATTGCGGATGTGCACAATGGTTATACGATGAATGTTGTAGAGCAAGTTCTAAAGGATAGGTAGAATACAACTGGATGGTGAGAACTAAGTTATTCTGGATAGCGAAGAATATGTAAGTACATATGCATGAAAATCAAGTACTATAATTTTGCAATTTTCAAAAAGTAAATGATATTTAAAAGGAGTTATGATAGGTTAATACTATCAAGACACGAGGGAGTCTTTCCCTCAGTATCTTCTCCAAAACTATCTAATGTCAATTTTTAAACAGTTAGGTAATAAATTTAAGGTTTCACAAGGTTAAATACCACAAGAATTATTTCAAATATTGTGCAACATTAAATATTACTTCTAGGTAGTTAAAAAAGAGAAATTTCCCTTGATTTGTCAGCTGAATTTCTGCATGCTTTTTCTAAATAAGGTGAAAAACAAAACAATTTCTTATGCAGCAATGCTATATTCAGGAAATATCTTGAGCTAAAAAATGAGCACACTATATTGAGGAAATATCTCGAGCTAAAACAGCATTCAAAGATAAAGTACATCAAATCCATAGAATGTACAATATCAAGAGTAAACCCTAATGTAAACTATGGGCTTTAATGACAATAATACTGATAGTGAAGGGGGCTATTCATGTGGCAGGGAAGAGGAAGTGGTATATAGGAAATCTCTGTACCTTCCACTCAATTTTACAGTAAAAAAACTGTAAATAAAAAATTAAGTCTAATAAAAAATATGTGTATATATAAATATATATATACACAAGAAAAAATAGAGTCAAAACATGAATATTTCACCCATTTTCTACATTGTTTTACCATATCTTGCACCATAGTGCATATGGATGTATGTGTGAGTGTCTATATAAATATATCCAGTAGTATCCTCAGTATCATTAGTATCCTTAAGGAATTGTTCCAGGACTCTTTTCACCCCCAGCAGATACCAAAATCCACAGATGCTCAAGTCTCTAAGAGAGAATGGCGTAGTATTTGCATATAACATATGCACATCCTCTCATATAATTTAAATCATCTCTAGATTATTTATAATATCTAACATAATGTAAATACTATATAAATAATTGTTATATTGTATTTTTAATTGCATTGTTTTTATTGTTTTATTATCTTTTTATTGTTTTTTCTTTTTCAGATATTTTGGACTTGCAGTATAATAAACATTTATGTATACAGCATTTACCAGAATTTAGCTCTAATTTTATCTCGGTTGAGTTGTTCTTAGTGATTTTCTTATACTCTTTAAATTATTTCCACTGAAACCACATAAACTTTGTAACCAGAAAGTAATCAGAATATTAATAAACAAAAAATCAAATTACCTACCCAACATTTTTACTGCACCAGAAAAAAAAATAGGACAGATTTTTCTGGTGGAAATACCTATGACAGTTGATGAGAATAGAAAAAGAAATAAATCTGAGAGCTGAGAACAATCCTATCACTCCTCTACTGTACACTACATAGACCAGGGAGATTTGCTACTCTTACAGTCTGCCTTCATTCTTAAATTGTTGTGTGAGGATATTGTTCTTGAAGACATTGCAGAAGAGTTCATATTTCATATCATTCCAAAATATAAATTTTATATTCATTAACAATGACCTCGTCGGTCCGGCATGGTGGTTCATGCCTGTAATCCCGGCAGTTTGGGAGGCCGAGGCGCATGGATCACCTGAGGTCAGGAGTTTGACACCAGTCTGGCCAATATGGTGAAACCTTGTCTCTACCAAAAATACAAAAAATTAGTCAGGTGTGGTGGCAGGCACCTGTAATCTCAGGTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGTGGAGGCTGCAGTGAGCCAAGATTTGCGTGATTGTACTTCAGCCTGGGCAACAAGAGTAAAACCTGAAACTCCCTCTCAAAAAAAAAAAGATCTCCTCAAATACTCTTCTATTCTTATTTAGGGATCTTTCTTCATTCCAAATTAGTACACTGGAAAGCATTTAAGCTAAAGGCATTTAAGCTGAATGAAAAACAAAACTATAAATGAGATGACTAAAATATAATCTAGTGATTCATCGATGTAGCTCTTTATTTAATTCTTCAGTTTTGTGTTATTTTTCCCAG
Seq C2 exon
GAACACTTTGTGATTTTCCAAAAATACACCATGGATTTCTGTATGATGAAGAAGATTATAACCCTTTTTCCCAAGTTCCTACAGGGGAAGTTTTCTATTACTCCTGTGAATATAATTTTGTGTCTCCTTCAAAATCCTTTTGGACTCGCATAACATGCACAGAAGAAGGATGGTCACCAACACCGAAGTGTCTCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134389:ENST00000256785:1
Average complexity
IR
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
Other Skipping 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