HsaINT0046602 @ hg38
Intron Retention
Gene
ENSG00000140995 | DEF8
Description
differentially expressed in FDCP 8 homolog [Source:HGNC Symbol;Acc:HGNC:25969]
Coordinates
chr16:89962012-89963443:+
Coord C1 exon
chr16:89962012-89962125
Coord A exon
chr16:89962126-89963362
Coord C2 exon
chr16:89963363-89963443
Length
1237 bp
Sequences
Splice sites
5' ss Seq
CGCGTGAGG
5' ss Score
4.08
3' ss Seq
TGCTCCCGCCTTGTTTGCAGAAG
3' ss Score
7.51
Exon sequences
Seq C1 exon
GTTTCTCGCTGCAGCATGCGCTACCTGGCGCTGATGGTGTCTCGGCCCGTACTCAGGCTCCGGGAGATCAACCCTCTGCTGTTCAGCTACGTGGAGGAGCTGGTGGAGATTCGC
Seq A exon
GTGAGGCTGGGGCCATGGAAGTGGGGGGCGGGGGCGCTGTGTCAGGTGGGCCCTAGGGCCGGGCCAGTACCCTCTTCTCCTCTGGGCCACGGGAGGTTCTGAGCAGAGGAGGGAGGCCACCTGCTTAGGGTGAGCCAGGCGCCGCGGCTGCCCTTTTGGTTGAAGGTGCTGGAGCGGTGTCCCGTAGTGATCTGATGCCAGGTGTGAACACAATATTAAATTTTGTAATAGCCACGTTAAAAAAGTAAAAAGAGCTGGGCACGGTGCTCACACCTGTAATCCCAGCACTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTGGCCGGGCATGGTGGTGTGTGCCTGTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCTGAGGTTGCTGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAGTAAAAAGAAACAAGTGAAGTTAATGTTAATAGTATATTTTATTTAGCCCAATATATCCAAAATGTTATTTCAACATGAAATCAATGTACATTTTTGAGATATTTGCTTTCTTTTTCTTTTTTGTGCCACGTCTTTGGCTCCAGCATGTAGCCTCTGCTAAGTCTCACTGCACAGCGGCCACTTTGAGGTGCTCTGTGGCTGTGCAGGGCTGGTGGCCACTCTCTTAGCCAGCGGTGAGGGAGGAGGTAGGGCGGGAGCCGAGGGCAGACGGGAGCTGCAGTCCTGGCAGGACATGATGGCGTCTCACGCCAGGTAGTGAAAGGAGGCAGGTCCCATTTTACCCGGGAGGAGACTGTGGCAGCACGTTGAGTTGCCAAGGCCAGGGCTGGGGAGGCAGCTGGGATTTCTCCGGAAGTTTGGCTTGGTCCTGAGGCTGCTGGTTCCTAGACAGTTGTGTGCCTGTGGGGCCGGGTGAGGGCAGAGGGAAGGGAGGGTTTTCTGGACCACGGTAAGTGAGCCTCACGGTCCTGCCCAGCCTGGGAGCTGTGATTTTGGGTTTTGGTGAAGCACTCAGATCTCGGCCCTTCGTGGGGAACCAACCCCTCCTGGCCCTGCCGTGGCCCCGGGTGTGCGGCCCACACAGGGGCCGCCCTGTGTCCTGGCTGAGGAGGCCTGCCTGCTCCCGCCTTGTTTGCAG
Seq C2 exon
AAGCTGCGCCAGGACATCCTGCTCATGAAGCCGTACTTCATCACCTGCAGGGAGGCCATGGAGGCTCGTCTGCTGCTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000140995:ENST00000268676:9
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:
PF139011=DUF4206=FE(18.0=100)
A:
NA
C2:
PF139011=DUF4206=FE(12.7=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
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:
GTTTCTCGCTGCAGCATGC
R:
GCAGCAGACGAGCCTCCAT
Band lengths:
190-1427
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