HsaINT0187499 @ hg38
Intron Retention
Gene
ENSG00000197363 | ZNF517
Description
zinc finger protein 517 [Source:HGNC Symbol;Acc:HGNC:27984]
Coordinates
chr8:144802870-144803767:+
Coord C1 exon
chr8:144802870-144802947
Coord A exon
chr8:144802948-144803640
Coord C2 exon
chr8:144803641-144803767
Length
693 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
3' ss Seq
AGCAGAGTATGTGGTTGCAGGAG
3' ss Score
0.06
Exon sequences
Seq C1 exon
AATTCACTGTCTGTAGCATCTGCTCCTCCACAGAGGGACCCTGGAATGGCGATGGCACTCCCGATGCCTGGACCTCAG
Seq A exon
GTGAGCACCCCCTGAGCCCGTCCATTGCCCCAGGAGACTGCTTCGCCCCTAGCCTCAGCTTTTCAGCCCTGAGAACCTTACAGCTTGCCTCACACCCACCCACATCACAGGATGGAGTCTGCAAGCCGAGGACAGCCTCCTCGCTCTATGGCCAGGCCTCACACATGGCTCTGCCAAATCCTTCCAGCCTTTGGGCAGAAGTGGGCTTCCTGCGGCCTCCTCTGGCCCCTGAGCTTCTATGGTCAGCCATTGAGGGCAGGGTCCCTGTCCTTCCCCAGTGCCTGCCTCCTTCCTGGTGTGAATGGTCAGCCCATCCTCCCTCTCCTGATGCTGACTCACTGCTGGTGTTAGAAATTGAGACCCAGAGGGTGGGGATGCTCCCCACAGTGCAGGTGCTCCTTCCCCAAATCCCTGATAGCCTGTGGAGAGGGCGAGGCCAAGGTTGGGACCCCCTTCCTGGTAAATCTCTCTCCCTCCCCCAAGTTCAGTTTTTCCCTCTTCCTCTCTGGGGCTTCTGCTGAGAATGAGGCCGCTCACTCGGGGGGTGTTGGGCTGCCCTTTCTCTGCTGGGCCCTGTGGATGCAGCAGTGGGCAGCAAGGAGAGAGGCCTCTAGCAGATCATGCAAATGTTTCTCATCTGCTGGGTTCTCACCGAGCCCTTGACTGCCTGGATAGCAGAGTATGTGGTTGCAG
Seq C2 exon
GAGGCGGTTGTGTTCGAGGATGTGGCTGTGTACTTCACAAGGATAGAGTGGAGTTGCCTGGCCCCCGACCAGCAGGCACTCTACAGGGACGTGATGCTGGAGAACTATGGGAACCTGGCCTCACTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197363:ENST00000531720:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.119 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0135222=KRAB=WD(100=95.3)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTCACTGTCTGTAGCATCTGC
R:
TGAGGCCAGGTTCCCATAGTT
Band lengths:
199-892
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