Special

HsaEX0073256 @ hg19

Exon Skipping

Gene
ENSG00000196150 | ZNF250
Description
zinc finger protein 250 [Source:HGNC Symbol;Acc:13044]
Coordinates
chr8:146105750-146112287:-
Coord C1 exon
chr8:146112225-146112287
Coord A exon
chr8:146106650-146108221
Coord C2 exon
chr8:146105750-146105843
Length
1572 bp
Sequences
Splice sites
3' ss Seq
TTTTGGATTTGTTCTTTCAGAAT
3' ss Score
9.93
5' ss Seq
TTGGTAAAA
5' ss Score
3.23
Exon sequences
Seq C1 exon
ACAACCTCAAATATGACCACACTACAGCCTGTACACAACAAGACAGTTTATCTTGTCCATGGG
Seq A exon
AATGTGAAACCAAGGGAGAGAGTCAAAATACAGACTTGAGTCCGAAGCCATTAATTTCAGAGCAAACAGTGATTCTGGGGAAAACACCCTTGGGGAGGATTGATCAAGAAAATAATGAAACAAAGCAAAGCTTCTGTCTGAGTCCAAACTCTGTTGACCACCGTGAAGTTCAGGTCTTAAGCCAAAGCATGCCACTCACTCCGCACCAGGCAGTGCCTAGTGGAGAGAGGCCCTACATGTGTGTTGAGTGTGGGAAGTGCTTTGGCCGGAGTTCCCACCTCCTTCAGCATCAGCGTATCCACACTGGAGAGAAGCCCTATGTGTGCAGTGTATGTGGGAAGGCCTTCAGCCAGAGCTCAGTCCTTAGTAAACACAGGAGAATTCACACAGGTGAGAAGCCCTATGAGTGTAATGAGTGTGGAAAAGCCTTTAGAGTGAGCTCAGATCTTGCTCAGCATCACAAGATACATACAGGAGAGAAGCCTCACGAATGTCTTGAGTGTCGGAAAGCCTTCACTCAACTCTCACATCTCATTCAGCACCAGCGGATCCACACGGGAGAAAGGCCATATGTGTGTCCGTTGTGTGGGAAAGCCTTCAACCATAGCACTGTTCTGCGGAGCCACCAGAGGGTACACACTGGGGAGAAGCCTCACAGGTGCAATGAGTGTGGGAAAACCTTCAGTGTGAAGAGGACACTGCTGCAGCACCAGAGGATCCACACCGGGGAGAAGCCCTACACGTGCAGCGAGTGTGGGAAGGCCTTCAGCGACCGCTCAGTCCTCATTCAGCACCACAACGTGCACACCGGGGAGAAGCCCTATGAGTGCAGTGAGTGTGGGAAGACCTTCAGCCACCGCTCCACACTGATGAATCACGAGCGGATCCACACCGAGGAAAAGCCCTATGCATGCTACGAATGTGGGAAGGCCTTCGTTCAGCACTCACACCTGATCCAGCACCAGAGAGTCCACACTGGGGAGAAGCCCTATGTGTGTGGTGAATGTGGGCACGCCTTCAGTGCACGCCGGTCTCTGATCCAGCATGAGAGAATCCACACAGGTGAAAAGCCCTTCCAGTGCACAGAATGTGGCAAAGCCTTCAGCCTGAAAGCAACTCTGATTGTGCACCTGAGGACCCACACGGGCGAGAAGCCATATGAGTGCAATAGCTGCGGGAAGGCCTTCAGCCAGTACTCAGTGCTCATCCAGCACCAGCGGATCCACACAGGCGAGAAGCCCTATGAGTGCGGGGAGTGTGGGCGTGCCTTCAACCAGCATGGCCACCTAATCCAGCACCAGAAAGTGCACAGAAAGTTGTGACCCATGGCTGACACAAGAATCCATTCTCACAGAAACTGCATGTGGAACCACAAGCAGCCTTCAGCCCAAGAGAAGTCTCTGTTAACTCTATAGGAAGCTTTTCTTTGGCGATTCAGTGTCACAAAATAACTCCAGAAAGAAGCACTTAGCGTGCTGTTCCTGTGGAAAAACTTCAGAGACTACCTGTTTTATTTTCCTCAACATCTTGAAGTTATGTTGGAGAGTAATCATACAATTGTAGAGAATTTTG
Seq C2 exon
ATCCTGTGCCCCAGAAACCGTGAGATGTCTCAATTCCCATGCAGGCAAAGGAGGGGAGCTTCACACTCAGCAGACCTCATAGCTGTTACACCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196150_MULTIEX1-3/4=2-4
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref, Alt. Stop)

No structure available
Features
Disorder rate (Iupred):
  C1=0.110 A=0.144 C2=0.857
Domain overlap (PFAM):

C1:
NO
A:
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)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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
  • Pre-implantation embryo development