Special

HsaEX0019740 @ hg38

Exon Skipping

Gene
Description
disco interacting protein 2 homolog B [Source:HGNC Symbol;Acc:HGNC:29284]
Coordinates
chr12:50504985-50640852:+
Coord C1 exon
chr12:50504985-50505240
Coord A exon
chr12:50625976-50626047
Coord C2 exon
chr12:50640724-50640852
Length
72 bp
Sequences
Splice sites
3' ss Seq
TCTGTTTCTTGCTATTTTAGGGG
3' ss Score
10.55
5' ss Seq
AAGGTAGGC
5' ss Score
10.08
Exon sequences
Seq C1 exon
ACGTGACCTTTGCTCATGGCGGCGGCGGCGGCGGCGGCGGTGCTGGTGGTGCTCGGCGGCCGGAGCCGGATCCTGTAGCCGGGTGTGGGCCCGTGTCTGTCCGTCCCTCCTTCGGCCCCCTCTCTTGTCTTCCGGAGTGTGGCTGGCGGAGCTGGGATGGCGGAACGAGGCCTGGAGCCGTCGCCGGCCGCGGTGGCGGCGCTGCCGCCTGAAGTGCGGGCGCAGCTGGCGGAGCTGGAGCTGGAGCTCTCGGAGG
Seq A exon
GGGACATCACCCAGAAGGGCTATGAAAAGAAAAGGTCCAAACTCCTATCTCCTTACAGCCCGCAGACACAAG
Seq C2 exon
AAACTGATTCAGCAGTACAGAAAGAACTTAGAAACCAGACACCTGCTCCATCTGCAGCTCAAACTTCTGCTCCCTCTAAGTACCACCGAACTCGATCTGGGGGAGCCAGGGATGAACGATATCGATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000066084-'0-10,'0-6,7-10=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.953 A=0.996 C2=0.990
Domain overlap (PFAM):

C1:
PF064646=DMAP_binding=PU(18.3=64.7),PF051207=GvpG=PU(38.9=61.8)
A:
PF051207=GvpG=PD(50.0=92.0),PF064646=DMAP_binding=FE(51.1=100)
C2:
PF064646=DMAP_binding=FE(35.8=100),PF051207=GvpG=PD(14.8=18.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Primers PCR
Suggestions for RT-PCR validation
F:
CTCTTGTCTTCCGGAGTGTGG
R:
GCAGGTGTCTGGTTTCTAAGT
Band lengths:
181-253
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