HsaEX6079457 @ hg19
Exon Skipping
Gene
ENSG00000147316 | MCPH1
Description
microcephalin 1 [Source:HGNC Symbol;Acc:6954]
Coordinates
chr8:6293569-6299677:+
Coord C1 exon
chr8:6293569-6293683
Coord A exon
chr8:6296474-6296617
Coord C2 exon
chr8:6299588-6299677
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-'5-6,'5-5,6-6=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.453 A=0.469 C2=0.516
Domain overlap (PFAM):
C1:
PF0171613=MSP=FE(44.2=100)
A:
PF0171613=MSP=PD(26.7=46.9)
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)