Special

HsaEX0073419 @ hg38

Exon Skipping

Gene
ENSG00000249471 | ZNF324B
Description
zinc finger protein 324B [Source:HGNC Symbol;Acc:HGNC:33107]
Coordinates
chr19:58453696-58457833:+
Coord C1 exon
chr19:58453696-58453822
Coord A exon
chr19:58454228-58454344
Coord C2 exon
chr19:58455183-58457833
Length
117 bp
Sequences
Splice sites
3' ss Seq
TCACCTGCTCCTCCTCACAGGAC
3' ss Score
11.69
5' ss Seq
CTGGTGAGT
5' ss Score
10.1
Exon sequences
Seq C1 exon
GACCTGATGACCTTCGAGGATGTGGCCGTGTACTTCTCCCAGGAGGAGTGGGGGCTCCTGGACACAGCGCAGAGGGCCCTGTACCGCCACGTGATGCTGGAAAACTTCACACTTGTGACCTCACTTG
Seq A exon
GACTCTCTACCTCCCGACCTCGTGTGGTCATTCAACTTGAGCGTGGCGAGGAGCCCTGGGTTCCCAGTGGAAAGGACATGACCCTGGCCAGGAACACCTACGGGAGGCTCAACTCTG
Seq C2 exon
GTTCCTGGAGTTTGACAGAGGATAGAGATGTTTCTGGAGAATGGCCACGAGCTTTCCCAGATACCCCACCTGGGATGACTACTAGCGTCTTCCCAGTTGCCGATGCCTGCCACAGTGTAAAAAGCCTGCAGCGACAACCGGGTGCCTCCCCATCTCAGGAGAGAAAACCCACGGGGGTGTCGGTGATCTACTGGGAGAGGCTCCTGCTAGGCTCGCGCAGTGACCAGGCCAGCATCAGCCTGCGACTGACCTCCCCACTCAGGCCCCCCAAGAGCAGCCGGCCCAGGGAAAAGACCTTCACAGAGTACCGGGTGCCTGGGAGGCAGCCCAGGACGCCTGAGCGGCAGAAGCCATGTGCACAGGAGGTCCCTGGGAGAGCCTTCGGGAATGCCTCGGACCTGAAGGCCGCCAGTGGTGGCAGGGATCGCAGAATGGGCGCAGCTTGGCAGGAGCCTCATAGACTCCTCGGTGGCCAGGAGCCCTCGACCTGGGACGAGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000249471-'5-4,'5-3,6-4
Average complexity
S
Mappability confidence:
80%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.135 C2=0.402
Domain overlap (PFAM):

C1:
PF0135222=KRAB=WD(100=100.0)
A:
PF0135222=KRAB=PD(0.1=0.0)
C2:
PF134651=zf-H2C2_2=WD(100=5.6),PF134651=zf-H2C2_2=WD(100=5.6),PF134651=zf-H2C2_2=WD(100=5.6),PF134651=zf-H2C2_2=WD(100=5.2),PF134651=zf-H2C2_2=WD(100=5.6),PF134651=zf-H2C2_2=WD(100=5.6),PF134651=zf-H2C2_2=WD(100=5.6),PF134651=zf-H2C2_2=WD(100=5.6)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGATGTGGCCGTGTACTTCT
R:
TGTCGCTGCAGGCTTTTTACA
Band lengths:
247-364
Functional annotations
There are 1 annotated functions for this event
PMID: [2]
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: inferred by curator. ELM ID: ELMI002972; ELM sequence: PWVP; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development