Special

HsaEX0073242 @ hg38

Exon Skipping

Gene
ENSG00000198105 | ZNF248
Description
zinc finger protein 248 [Source:HGNC Symbol;Acc:HGNC:13041]
Coordinates
chr10:37837985-37858106:-
Coord C1 exon
chr10:37858005-37858106
Coord A exon
chr10:37856296-37856337
Coord C2 exon
chr10:37837985-37838111
Length
42 bp
Sequences
Splice sites
3' ss Seq
CTTCCTTTCTAATCCTTCAGCTC
3' ss Score
9.78
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
CGCATGTGCATCCCCGCCTCCCGCTCCAGGCGAGTCCTTCCCTGGACTCCAGTCCCTTGTGGGAAACAATCCCTCGCCTCCGGAGGCGGCGAGGAGCGGCGG
Seq A exon
CTCTCCTTCCTCCACTAAGAGCGGAAAATGAACAAATCCCAG
Seq C2 exon
GAACAAGTGTCATTCAAGGATGTATGTGTGGACTTCACTCAGGAAGAGTGGTATCTGCTGGACCCTGCTCAGAAGATTCTATACAGAGATGTGATCCTGGAAAATTATAGCAATCTTGTCTCAGTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198105_MULTIEX2-3/6=C1-5
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref, Alt. ATG (>10 exons))

No structure available
Features
Disorder rate (Iupred):
  C1=NA A=0.079 C2=0.000
Domain overlap (PFAM):

C1:
NA
A:
NO
C2:
PF0135222=KRAB=WD(100=95.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
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:
CTCCAGGCGAGTCCTTCCC
R:
GGGTCCAGCAGATACCACTCT
Band lengths:
144-186
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