HsaINT0139632 @ hg38
Intron Retention
Gene
ENSG00000092871 | RFFL
Description
ring finger and FYVE like domain containing E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:HGNC:24821]
Coordinates
chr17:35017523-35021781:-
Coord C1 exon
chr17:35021371-35021781
Coord A exon
chr17:35017607-35021370
Coord C2 exon
chr17:35017523-35017606
Length
3764 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
3' ss Seq
TTACTTTTCTCTTCCCACAGGCC
3' ss Score
13.21
Exon sequences
Seq C1 exon
CAGACCTGCTTGGACTGTAAGAAAAATTTTTGCATGACCTGTTCGAGCCAAGTAGGGAATGGGCCCCGCCTCTGCCTTCTCTGCCAACGGTTTCGAGCTACAGCCTTTCAGCGAGAGGAGCTCATGAAGATGAAGGTGAAGGACTTGAGGGACTATCTCAGCCTCCATGACATCTCTACCGAAATGTGCCGGGAGAAAGAAGAGCTGGTGCTCTTGGTCCTTGGCCAGCAGCCTGTAATCTCCCAGGAGGACAGGACTCGTGCCTCCACCTTGTCCCCAGACTTTCCTGAGCAGCAGGCCTTCCTGACCCAGCCTCACTCCAGCATGGTTCCACCTACCTCACCCAACCTCCCCTCTTCATCTGCACAAGCCACCTCTGTTCCCCCAGCCCAGGTTCAGGAGAATCAGCAG
Seq A exon
GTAAGGGCCCATTTGTAGTCTCTGCCAGTCTGTGCCAGTTTGAGGGCTCATTTTCATTTTCCTCTCCTGCCTTTGTTGTGAGAATGGGGTATAAGGCTAAGTGTCTTGATTATGTGAAGCCTTTCTGACTACTGGTGCACCAAGTGTTTTCTGGGTATCAGACTCATGTTTTGGCTTTCTTCAGAGGTGATATGCACAGTACCAATTTTTTTGTTTGTTTTTTGTTTTTAATACACACATATCCTAGTTAGACATTTTTTAAAGTTCATCATTCCAGAAATATTTTGAGAAAAGTAACCATTAAGCCATCAAATTTAGTTCTGTTCCAATTTGTCTTTCAACTTAACTCCTTTGTTGCAGTCTTCATTGGCTGGATTGGAAACTTAGTTCCTTAGTAACCATCACAAGGAATATAGGAAAGCAAAGGGCTATATGGAGGCAAGGGAGGGTGGGGAAACAGACAAAGACACTGCTTCTCTTACCAGTCACTGGCTGGAAGCAGGAGTAGTTGGCACGCTGTACTTGCATGCTGCTTCTTCATTATCCTGGGGGGCTTGGAAGTGGTAAGCTAAGAGCAGCACATCAACTGAATCATGACCCAGGTCTGGGGAGTATAGAAATGAGTAATAAACTGTCTCTGTCCTCAAAAAGCCCCCAGAAGAGGGAAGGTAGACAGGTAGACCAACTAACTACTGGATTAGAGTGAGGCCAGTGGACATAATTGTTGTATAAGAAGTGATGATGTTGCATAAGTGCCTTAAGTGACTCTGTTATTTATAGCAGCGGCCCCTAACCTTTTTGGCACCAAGGACTCGTTTTGTGGAAGACAATTTTTCCACAGACTGGGGTGCGTTGGTTTTGGGATGAAACTATTCTACCCAGATCATCAGGCATTAGTTAGATTTTCATAAGGAGCATGCATCCTAGATCCCTCGCATGCGCAGTTCACAACAGAGTTCACATTCCTATGAGAATCTAATGCCACCGCTGATCTGACAGGAGGCAAAGCTCAGGCAGTAATGCTTACTTGCCAGCCACTCACCTCCTGCTGTGCATCCGGGTTCCCAACAAGCCATGGACCAGTACCAGTCTGTGGCCCAGGGGTTGGGGACCCTTGATCTATAGGGCTTGGGCAATATGGGGGAATTAGGAACTACAAGATCCAATTTCCACATCCACTTTTGTCACTGACTTCTTGATCCCCTTGGGCAAATGTTGAGCCTACAACAATGAAATGAGGTTAGTAATCACAGACCACTTTTGATCTTGCCAGGATGTTGAGAGACCTGAATGCGTGATACCATGTCTAAAAGAGCTCTGAGTTACTTAGAGCTGGTATAGTGCTAGTGCTGTTGGTTCCCACACATGATGTGGATGGCTGCTGCCACTTGTTTATGATCACCTCCTTTGCCAGGACTGGGCCCCCTGATTCAGCTCTTGACAACCACTGAGGCATAAAGGCCAATGTGATAGCATAATTTAACTGCAGTAAAATCATTTAACTCCCTTTTTGGCCTGAACATGTTTTTCTCCGCAGCTGGACTTTAATTCTTTCCTAAGCTCTGACTCTTGGTCTGCTAGACAGATTTAAACTCCTGCTATATATTCTTCCCTTTGCTTGTGTTTTTTTTTTTTCCACTCTATGTATAAGGAGCCAGGAGAAGAACTTGAGGAATTCTTTTTCTGTAAAGAACCTTGGCTGGGCGTGGTGGTTCATGCCTGGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATTTGAGCCCAGGCATTTGAGACTAGCCTGGCAACATGGCAAAAACCTGTCTCTACAAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTAGCTACTCAAGAGGCTGAGGTGGGAGGATCATTTAAGCCTGGGAGGTCGAGGCTGCAGTGAACCATGATCATGCCACCACACTCCAGCCTGGGCAACAGAGTGAGATCCTGTCTCAGAAAACAAAAACAAAAAACCAAGCAAACTTTTCAGGTAGATTTTTCAATGAAAGATGATAAGCTTCCTGTCATTAACCAGAAATTTCCAGATTGCACCTAAAGGTCACCCTACATACAAGATCTAAGTGGGTACTTTTCCTCTGAGATTTTCAAGAGACCTTAGTGTCTGCTTACATCCCCTGTTCTGGTGAGAGCTGCACTTTGCAAGCAGGAAAAACAGGCATGGAAGAATTAAGTAACTTACGCAGTACTGTCTGACAAGTTCATAAGTGAGCTGCACCTAGAATGTAAATTTCCTTATAATACTTGCTCAACCAGAGTTCTCTCTTTCACCTTTAGTGCCCTAGCAATCAATAGTTGCTAGGCAAGGAAGTATATACAATAAGCACAACTGTGGACAGGTACTAGTTTTGGATTTTTATTTAGCCAGTGGGCAAACTGGAAAGACAAGAGCATGCTTTGCAGCATGAGGTCGTTTCTCTTTCTAGGAAACAGGACATCTGAAAGATAGCTACTTAGGAACAGGTTAGGCTCTGAAGGATTCCAGGGTAATTCCAAGGTAACACTACCTGAGAGACCAGTGAGGATCTACAGTAAGCTAAGAGAAAACGTTGTTGATGAAGACATTGATTTGGATCCATCCCCATACATGTGTACTATGCATTTGATCTTGCCTTGATTTGGCATTTTGTTACTTCTGCTTTTCATTTCCATTGCAGTTGGTTGCCTCTTCTTGATTAGCTCCATATTATGAATCCTAATGTGGGGTGAGTGGCTGGGGTCGGTGGGTGTCTTTGGTTTCCCAGATTGTCCCTTCACTGGCATCCCCAGAATCTGGTGGAAAAGGCCTGTGAGCTCAGACACCTCTTTGCTCTGAGCTCACAGCAGGCCCTTTGCCTGCAGGGAGCAGTGGGCGAAGAGGATCTACTTAAGGGGTTTGTGGCTTAAATGGTGATGGAATTAGGAGGCTAACAGTTCTGCCTACTCTTTGGCCAAACCTCCTAAAAGAGTACTCAGGAGGAACCTTTTGAGAAGTGAGAATTCTAAGCATAATGAAATTCCGTAAGCATAGGCAGTGTTTTATATAGTGTTAGGCTAATAGATTCTTAGATACATTAAAATACTCTTTGACTAGGTCTGGACATAGCACTTAATAATAGTGTGCTCAACATGGGGAGCACATTTCCAGAATGTGAGAGTAGTTACTAGGCAGAAAAGAAAGAGACTAGGGTGGTGATGATCTGGAAACTTTGTCCCATCAGTGTCAGATAAGGAAGCCAGGGAGATTTAGTGTGAAGGAGGGGAAAACATGGTATAAACAGTTTGGGAAAAACAAAAAACAAACAAACAAAAACCCCAGGAGACTATGGTCTGAGGAGCAGAACCAGGGATAGGGATGGCAATTTTGGATCAGTGTCAAGAAAAACCTTGATGCCAGATAGAGAGCAGTCCAGCAGTGGAATGGACACAATGACCTTCCCTTCACCTGTGGTGCTCAAGCTGAGATTAAATTGATGATGAGTTGTGGCTACTGCCATCCTGGTGTGTGCAGAATTAATGCAGTTTTGTTCTAGAGGGCAGCTTTGTCTATTGAAATGTATTTTTGTTGTTTCTCTGCTTGACAAAGTTGGTATGAGAGAGCAGGCTTTTGTAATGATGCTGTAAGAGGCTCCGGATTTCTGGGCATGATGGGAGTACATTCTGGACATTGTGTGAGTTGAAAAGAGGCCCATGCTATGCAGATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAG
Seq C2 exon
GCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000092871:ENST00000315249:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.397 A=NA C2=1.000
Domain overlap (PFAM):
C1:
PF0231811=FYVE_2=PD(69.2=32.8)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
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:
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