Special

HsaEX0073254 @ hg38

Exon Skipping

Gene
ENSG00000196150 | ZNF250
Description
zinc finger protein 250 [Source:HGNC Symbol;Acc:HGNC:13044]
Coordinates
chr8:144876951-144890074:-
Coord C1 exon
chr8:144889933-144890074
Coord A exon
chr8:144889581-144889694
Coord C2 exon
chr8:144876951-144882836
Length
114 bp
Sequences
Splice sites
3' ss Seq
ACTTCCCTCCCCACGAGCAGGAC
3' ss Score
5.94
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
CCCCTGTCGTTCCAGGCCAAGCTGACCTTCGAGGATGTGGCTGTGCTCCTCTCCCAGGATGAATGGGACCGCCTGTGCCCTGCTCAGAGGGGTCTCTACAGAAATGTGATGATGGAAACCTATGGGAATGTAGTCTCATTGG
Seq A exon
GACTTCCAGGATCCAAGCCTGACATAATCTCCCAGCTGGAGCGAGGGGAAGATCCCTGGGTCCTGGACAGGAAGGGGGCTAAGAAGAGCCAGGGCCTGTGGAGTGACTACTCAG
Seq C2 exon
AATGTGAAACCAAGGGAGAGAGTCAAAATACAGACTTGAGTCCGAAGCCATTAATTTCAGAGCAAACAGTGATTCTGGGGAAAACACCCTTGGGGAGGATTGATCAAGAAAATAATGAAACAAAGCAAAGCTTCTGTCTGAGTCCAAACTCTGTTGACCACCGTGAAGTTCAGGTCTTAAGCCAAAGCATGCCACTCACTCCGCACCAGGCAGTGCCTAGTGGAGAGAGGCCCTACATGTGTGTTGAGTGTGGGAAGTGCTTTGGCCGGAGTTCCCACCTCCTTCAGCATCAGCGTATCCACACTGGAGAGAAGCCCTATGTGTGCAGTGTATGTGGGAAGGCCTTCAGCCAGAGCTCAGTCCTTAGTAAACACAGGAGAATTCACACAGGTGAGAAGCCCTATGAGTGTAATGAGTGTGGAAAAGCCTTTAGAGTGAGCTCAGATCTTGCTCAGCATCACAAGATACATACAGGAGAGAAGCCTCACGAATGTCTTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196150_MULTIEX1-1/5=C1-3
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.154 C2=0.196
Domain overlap (PFAM):

C1:
PF0135222=KRAB=WD(100=85.4)
A:
PF0135222=KRAB=PD(0.1=0.0)
C2:
PF134651=zf-H2C2_2=WD(100=5.9),PF134651=zf-H2C2_2=WD(100=5.7),PF134651=zf-H2C2_2=WD(100=5.9),PF134651=zf-H2C2_2=WD(100=5.9),PF134651=zf-H2C2_2=WD(100=5.9),PF134651=zf-H2C2_2=WD(100=5.9),PF134651=zf-H2C2_2=WD(100=5.9),PF134651=zf-H2C2_2=WD(100=5.9),PF134651=zf-H2C2_2=WD(100=5.9),PF134651=zf-H2C2_2=WD(100=5.7),PF134651=zf-H2C2_2=WD(100=5.7),PF134651=zf-H2C2_2=WD(100=5.9)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
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:
GATGAATGGGACCGCCTGTG
R:
ACGGTGGTCAACAGAGTTTGG
Band lengths:
249-363
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development