HsaEX0072989 @ hg38
Exon Skipping
Gene
ENSG00000090612 | ZNF268
Description
zinc finger protein 268 [Source:HGNC Symbol;Acc:HGNC:13061]
Coordinates
chr12:133187872-133214831:+
Coord C1 exon
chr12:133187872-133188072
Coord A exon
chr12:133191489-133191615
Coord C2 exon
chr12:133202144-133214831
Length
127 bp
Sequences
Splice sites
3' ss Seq
ATGAGCATATTGTATTTCAGGGA
3' ss Score
7.1
5' ss Seq
TAGGTAAGT
5' ss Score
9.66
Exon sequences
Seq C1 exon
GTCCCACCTCTCCAAGAACGAAACAGTTCATGGGATAGGATCAGAAAGCTCCAAGGTCAGGAATCCATCTTGGGCCAAGGGACTCCTGGTCTGCAACCTCTCCCTGGAACACCCAGGCAGAAGCAGAAGAGTCGCAGAATAGAGAAAGTCCTAGAGTGGCTGTTTATTTCCCAAGAGCAGCCAAAAATCACCAAGTCCTGG
Seq A exon
GGACCTTTGTCATTCATGGATGTGTTTGTGGATTTTACCTGGGAGGAGTGGCAGCTGCTAGACCCAGCACAGAAGTGCCTGTACAGGAGTGTGATGTTGGAGAACTATAGCAACCTGGTGTCCCTAG
Seq C2 exon
ACACAGTCTGGAAAATTGATGATCTTATGGATTGGCATCAGGAAAATAAAGACAAGCTGGGAAGTACGGCAAAAAGCTTTGAATGCACTACATTTGGAAAACTATGTCTTCTTAGTACAAAGTATCTTTCAAGACAAAAACCTCATAAATGTGGCACGCATGGAAAGAGTTTGAAATATATAGATTTCACTAGTGATTATGCTAGAAATAATCCTAATGGGTTTCAGGTACATGGAAAATCATTCTTCCATTCTAAACATGAGCAAACTGTTATTGGAATAAAATACTGTGAAAGTATTGAATCTGGAAAAACCGTCAATAAGAAATCGCAACTTATGTGCCAACAAATGTATATGGGCGAAAAACCCTTTGGATGCAGCTGTTGTGAGAAAGCCTTCAGCAGCAAGTCATACCTTCTAGTGCATCAGCAAACTCATGCCGAAGAGAAACCCTATGGTTGTAATGAATGTGGGAAAGACTTCAGTAGTAAATCATACCTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090612_MULTIEX1-4/7=3-C2
Average complexity
C3*
Mappability confidence:
90%=90=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.254 A=0.000 C2=0.017
Domain overlap (PFAM):
C1:
PF0135222=KRAB=PU(3.3=1.5)
A:
PF0135222=KRAB=FE(90.0=100)
C2:
PF0009621=zf-C2H2=WD(100=2.9),PF134651=zf-H2C2_2=WD(100=3.1),PF134651=zf-H2C2_2=WD(100=3.3),PF134651=zf-H2C2_2=WD(100=3.1),PF134651=zf-H2C2_2=WD(100=3.3),PF134651=zf-H2C2_2=WD(100=3.1),PF134651=zf-H2C2_2=WD(100=3.1),PF134651=zf-H2C2_2=WD(100=3.3),PF134651=zf-H2C2_2=WD(100=3.1),PF134651=zf-H2C2_2=WD(100=3.3),PF134651=zf-H2C2_2=WD(100=3.1),PF134651=zf-H2C2_2=WD(100=3.3),PF134651=zf-H2C2_2=WD(100=3.1),PF134651=zf-H2C2_2=WD(100=3.1),PF134651=zf-H2C2_2=WD(100=3.3),PF134651=zf-H2C2_2=WD(100=3.1),PF134651=zf-H2C2_2=WD(100=3.3),PF134651=zf-H2C2_2=WD(100=3.3),PF134651=zf-H2C2_2=WD(100=3.1),PF134651=zf-H2C2_2=WD(100=3.0),PF134651=zf-H2C2_2=WD(100=3.3),PF134651=zf-H2C2_2=WD(100=3.3),PF134651=zf-H2C2_2=WD(100=2.9)
Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGGCAGAAGCAGAAGAGTCG
R:
TCTTTCCATGCGTGCCACATT
Band lengths:
256-383
Functional annotations
There are 1 annotated functions for this event
PMID: 16865230
mRNA: ZNF268a (skipping exon 6), ZNF268b (all in), ZNF268c (4,6), ZNF268d (3,4,6), ZNF268e (4,5,6), ZNF268f (3,4), ZNF268g (3). Subcellular localization analysis showed that ZNF268a and ZNF268b2 distributed diffusely throughout the cell, while ZNF268b1 mainly localized in the cytoplasm. Moreover, using a CAT reporter system fused to the Gal4 DNA binding domain of the ZNF268 gene, the ZNF268a and b2 activated the CAT reporter gene expression, while the KRAB domain, corresponding to the ZNF268b1 repressed the reporter gene expression. mRNA: ZNF268a (skipping exon 6 = HsaEX0072991), ZNF268b (all in), ZNF268c (4,6), ZNF268d (3,4,6), ZNF268e (4,5,6), ZNF268f (3,4), ZNF268g (3). Protein: ZNF268a, ZNF268b1 (PTC in last exon), ZNF268b2 (from internal ATG in exon 7, derived from isoforms c-g). Exon 3 =HsaEX0072986, Exon 4 = HsaEX0072989, Exon 5 = HsaEX0072990, Exon 6 = HsaEX0072991.
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