Special

HsaEX6014408 @ hg19

Exon Skipping

Gene
ENSG00000144026 | ZNF514
Description
zinc finger protein 514 [Source:HGNC Symbol;Acc:25894]
Coordinates
chr2:95818419-95823184:-
Coord C1 exon
chr2:95823096-95823184
Coord A exon
chr2:95818878-95819004
Coord C2 exon
chr2:95818419-95818514
Length
127 bp
Sequences
Splice sites
3' ss Seq
GAGTGTCTTCTGTGTTTCAGGAC
3' ss Score
10.01
5' ss Seq
TGGGTGAGC
5' ss Score
7.23
Exon sequences
Seq C1 exon
CTTCCCCTTCTCAGAATCCTGCTCTTCCTCCAGAGAGATTCCCAGGAGAAGAGGGAACAACCAATTCATTCCTGAAAGCCAGGCCTCGG
Seq A exon
GACCTGATGACATTTGAAGATGTGGCTGTGGAATTCAGCCAGTGGGAGTGGGGGCAGCTGAACCCTGCTCAGAAGGACCTCTACAGGGAGGTGATGCTGGAGAACTTCAGGAACTTGGCCATTCTGG
Seq C2 exon
GCCTTCTAGTATCCAAACCATATGTGATCTGCCAGTTGGAGGAAGGGGGTGAGCCCTTCATGGTGGAGAGAGAAATCTCAACAGGAGCCCACTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144026-'4-7,'4-6,7-7=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=NA A=0.000 C2=0.058
Domain overlap (PFAM):

C1:
NA
A:
PF0135222=KRAB=WD(100=100.0)
C2:
PF0135222=KRAB=PD(0.1=0.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCCCTTCTCAGAATCCTGCT
R:
TGAGTGGGCTCCTGTTGAGAT
Band lengths:
182-309
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains