HsaEX1023164 @ hg38
Exon Skipping
Gene
ENSG00000147316 | MCPH1
Description
microcephalin 1 [Source:HGNC Symbol;Acc:HGNC:6954]
Coordinates
chr8:6621454-6648504:+
Coord C1 exon
chr8:6621454-6621691
Coord A exon
chr8:6625957-6626115
Coord C2 exon
chr8:6642994-6648504
Length
159 bp
Sequences
Splice sites
3' ss Seq
CCTTTCTTTATTATTATTAGTAT
3' ss Score
5.39
5' ss Seq
ATTGTTAGT
5' ss Score
-3.4
Exon sequences
Seq C1 exon
CTGTGCCGAAGCGAGTGCCACTTGTCTGCAGGGCCGTACCGCGGAACCCTCTTTGCCGACCAGCCAGCGATGTTTGTCTCGCCTGCCAGCAGCCCCCCAGTGGCCAAGCTCTGTGAACTAGTCCACCTGTGCGGAGGCCGGGTCAGCCAAGTCCCCCGCCAGGCCAGCATCGTCATCGGGCCCTACAGCGGAAAGAAGAAAGCCACAGTCAAGTATCTGTCTGAGAAATGGGTCTTAG
Seq A exon
TATTCTGTGGCCAGAGGAGGGAAAGGAAGGTGGGTACTGAAACGACAGCTCTTCCCCTGGGACTGCAGCATCCGAGCACCACAGTCCACCCGCCAGCCTTTGTTCCTGCACAGTCTGCCTCTCAAGACCAACAACTCCATATCTATGACGATAAAAATT
Seq C2 exon
ATTCCATCACCCAGCACAAGGTCTGTGCCCCTGAAAACTACCTATTGTCACAATGACAGTGACCTCACTGGCCTGTGGTGACTGCACACAGCTCGCAAAACTGTCTTTGGATGTTCAAATGAGAAACAAAACTGTGAAGAGAAGGAACTGGCGTATACAAGATGACTTCTGATATCATGTTTGCCATGTGTTGTGGTTCTTAAGAACTCATAGGTGACTTTCTGATGACTGAATGTCTGTTTCAGAGACGCTTCGGGCCTTTTTATTTTTATTTTATTTTTTATTTTTTGAGACGGAGTCCTGCCCTGTTTCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTGCCACCATGCCTGGCTAATTTTTGTAGTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACGCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147316_MULTIEX2-9/11=7-11
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.278 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000344683fB19673
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGCCAAGCTCTGTGAACTA
R:
AGACAGTTTTGCGAGCTGTGT
Band lengths:
245-404
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains