HsaEX0038308 @ hg19
Exon Skipping
Gene
ENSG00000147316 | MCPH1
Description
microcephalin 1 [Source:HGNC Symbol;Acc:6954]
Coordinates
chr8:6357373-6501144:+
Coord C1 exon
chr8:6357373-6357450
Coord A exon
chr8:6478975-6479212
Coord C2 exon
chr8:6500515-6501144
Length
238 bp
Sequences
Splice sites
3' ss Seq
TATCTCTGTCTGCCCCACAGCTG
3' ss Score
10.24
5' ss Seq
TAGGTAAGA
5' ss Score
9.14
Exon sequences
Seq C1 exon
GTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCC
Seq A exon
CTGTGCCGAAGCGAGTGCCACTTGTCTGCAGGGCCGTACCGCGGAACCCTCTTTGCCGACCAGCCAGCGATGTTTGTCTCGCCTGCCAGCAGCCCCCCAGTGGCCAAGCTCTGTGAACTAGTCCACCTGTGCGGAGGCCGGGTCAGCCAAGTCCCCCGCCAGGCCAGCATCGTCATCGGGCCCTACAGCGGAAAGAAGAAAGCCACAGTCAAGTATCTGTCTGAGAAATGGGTCTTAG
Seq C2 exon
ATTCCATCACCCAGCACAAGGTCTGTGCCCCTGAAAACTACCTATTGTCACAATGACAGTGACCTCACTGGCCTGTGGTGACTGCACACAGCTCGCAAAACTGTCTTTGGATGTTCAAATGAGAAACAAAACTGTGAAGAGAAGGAACTGGCGTATACAAGATGACTTCTGATATCATGTTTGCCATGTGTTGTGGTTCTTAAGAACTCATAGGTGACTTTCTGATGACTGAATGTCTGTTTCAGAGACGCTTCGGGCCTTTTTATTTTTATTTTATTTTTTATTTTTTGAGACGGAGTCCTGCCCTGTTTCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTGCCACCATGCCTGGCTAATTTTTGTAGTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACGCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147316-'20-23,'20-19,23-23
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0053321=BRCT=PD(6.6=15.4)
A:
PF0053321=BRCT=PU(95.7=82.5)
C2:
PF0053321=BRCT=PD(2.9=10.5)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCGTTCGAACTGTCTCACCAC
R:
TAAAAAGGCCCGAAGCGTCTC
Band lengths:
301-539
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
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)