Special

HsaINT0187499 @ hg19

Intron Retention

Gene
ENSG00000197363 | ZNF517
Description
zinc finger protein 517 [Source:HGNC Symbol;Acc:27984]
Coordinates
chr8:146028255-146029152:+
Coord C1 exon
chr8:146028255-146028332
Coord A exon
chr8:146028333-146029025
Coord C2 exon
chr8:146029026-146029152
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-ZNF517:NM_213605:2
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:
PF0135222=KRAB=WD(100=95.3)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
([1])
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