HsaEX6079457 @ hg38
Exon Skipping
Gene
ENSG00000147316 | MCPH1
Description
microcephalin 1 [Source:HGNC Symbol;Acc:HGNC:6954]
Coordinates
chr8:6436048-6442156:+
Coord C1 exon
chr8:6436048-6436162
Coord A exon
chr8:6438953-6439096
Coord C2 exon
chr8:6442067-6442156
Length
144 bp
Sequences
Splice sites
3' ss Seq
GATTTTTTGTTTATTTTCAGATG
3' ss Score
10.4
5' ss Seq
CCTGTAAGT
5' ss Score
7.52
Exon sequences
Seq C1 exon
CGTAAATGTATGCAGCCCAAAGATTTTAATTTTAAAACACCAGAAAATGATAAGAGATTTCAGAAGAAATTTGAGAAAATGGCTAAAGAGCTACAAAGGCAAAAAACAAATCTAG
Seq A exon
ATGATGATGTACCTATTCTCTTATTTGAATCTAATGGTTCATTAATATATACTCCCACAATTGAAATTAATAGTAGGCACCACAGCGCAATGGAGAAGAGATTACAAGAGATGAAGGAGAAAAGGGAAAATCTTTCCCCCACCT
Seq C2 exon
CTTCCCAAATGATTCAGCAGTCTCATGATAATCCAAGTAACTCTCTGTGTGAAGCACCTTTGAACATTTCACGTGATACTTTGTGTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147316_MULTIEX3-3/7=2-4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.478 A=0.469 C2=0.551
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGTAAATGTATGCAGCCCAAAGA
R:
CTGAACACAAAGTATCACGTGAA
Band lengths:
205-349
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains