HsaINT0100952 @ hg19
Intron Retention
Gene
ENSG00000147316 | MCPH1
Description
microcephalin 1 [Source:HGNC Symbol;Acc:6954]
Coordinates
chr8:6296474-6299677:+
Coord C1 exon
chr8:6296474-6296617
Coord A exon
chr8:6296618-6299587
Coord C2 exon
chr8:6299588-6299677
Length
2970 bp
Sequences
Splice sites
5' ss Seq
CCTGTAAGT
5' ss Score
7.52
3' ss Seq
TGTCTTGGTCCTGTTTTTAGCTT
3' ss Score
8.49
Exon sequences
Seq C1 exon
ATGATGATGTACCTATTCTCTTATTTGAATCTAATGGTTCATTAATATATACTCCCACAATTGAAATTAATAGTAGGCACCACAGCGCAATGGAGAAGAGATTACAAGAGATGAAGGAGAAAAGGGAAAATCTTTCCCCCACCT
Seq A exon
GTAAGTAATTAGTTTGTAAAATGAAAATTATGCAAATAGCCGATTCAATTATGGTGGAAAGCTTCTTTTTTCTTTGCCTAGATATTTTAATGTTTCCTGGTAGTAACACATTTTGACTTATTTCATGGCTGGCTTTGTTTTCCAGAAAATCTTATGCATCATTAAGATTTTTGAAGCATATGTTGGGTGTATAGTATTCTTCAAGTTTAAAATCCTATTTGTTGTAGCTCCTTTGTAATTTCTATTATCTTTGGAATTTTTTCTTTCTTTTTTTTTAAAAAAAAATGAATCATGTCTTTTTTTTTTTTTCTGAGATGGAGTTTTGCATTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTGGGCTCACTGCAACCTCCCTAGTTCAAGTGATTCTACTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGTCACCACTCCTGGCTAATTTTTTTTTGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCATGCTGGTCTTAAACTCTTAACCTCAGGTGATACACCCGCCTCGGCCTCCCAAACGGCTGGGACTGTAATCCAGGCGTGAGCCACCGCTCCTGGCCGTGAATCATGTCTTTTGAAGGAATTTGCTTTAGATTAATGTATCTAAGGAATCAGTTTGTTTTTCATTATTTCTTTTATCTTTAAAATTTTTAATTACTGAAGTGTAATTCACATTTTAATAAAACATTTATCAAAGTAGCTAATAGTAAAAGTTCATCTTGATACCCATCTAATTGTACTCTTCTACCTGGGGGTAACCTGTATTTTAAGTTTAAGTGTTTTTCCAGATCTGTTTCAGTGTATCAGATATCTGTGTATACATGAAAAAGATACGGGTTTGGTTTCTGTGTGGAGGTGTAATTTCTGTTTTACCTAAATTAGATAATGACATATGTATTATTATCCGCTTTATTTACTTAAGAGTATCCTGGAGGGTTTGTTTGCAGCTTAGTTGTTGTAGACCTATTTTTGTTTTAAGATGCTCAAAGTAGTCTACAGTTTTGATATTGAAAATCTATTGGTGGGTATTTTTTTCCCAGTTATTAGAAATTGTGTTGCAGTTTTTATTCTTTTTTTAACCATATGGTTTGGTTGTTCTTGTTTTTTTGTTAAGCCATTTTCCTTTCTCTAGACATAAGTCTTTCCAGCTTCCCACCCCGACTTTTTACTGTTATAACCCCTGCATGTGCCTACGTGAATCCTTGTATTTCTGAGTACTTCGTGTATTTCAATAATACTAATTCATACATGCAGAATTTGATTTTTTAAAGACATAGAGTCTCCCTGTGTTGCGCAGGCAGGACATGCACTCCTGGGCTCAAGTACTTCTGCCTCACCCTCTCAAGTAGCTAGGAATACAGGTGTGTGCCACGATCCCTGGCTTATTGATAGATATAGTCAAATTATCCTTCAAAAAATTTGAGTCATCTTATTGTCACCAGTTGTTTATAAGAATGCCCCTTTCTCCATACTTGGAAAACTGAATGGCATTAGCCTGTAGCCTTTTTCAGTCGGAAGCTTGAAAAACTGGATCTGTTCTTGAAGTTACTTTTGATTAGAAGCAGGTTTAAGTGCCTTTTCATATTACTGACTGACTTACCGAATGCAGCTTTTAATGTGATCAACTATTACCTCGCTTAATTTTATGTCCTTTGTCCATATGTATCAGTTAAGGTTAGTTTCGGCTGCATATAACAAAGACAAAAACCAATGTGTTACAATCGATAGAATTGCCTTTCTCTGTCTTGCCTAGTTCAGAAGTAGGCAGCCAGGGCTGGGATGCCATTCCATGGTGTCTTTAAGAAACTAGGTTCCCATCTTTCTGTTGTACCTGCCTGGCTTTTCTTGCAAAATGTGTGTGCCTCCCAGCTAAGCCATCTCCTTTTGACAGCCTTACCAGACGTCTATCCAATATTCCTGTCTAATTCCATTGGCTGGAATGTGGTCATATGGCCACCCCTTTTGCAAGCAAGACTGAAATGTAGTCTTGACTGGGATGCATTGCTGTCCTGATAAAATCAAAGTTCTGTTGTTAAGAAGAAGTGAGAATGGACATTGAGGTAGATAACTAGCTGTGTCCCAGGTGGACATCCAAATTGTTTCAGTGTGCAATTATGTGTATAAACTAATTTGCCTTAAACTTTACTTTTTCTATTACTTGGCAGTGTTAATTCTGCTACTTTACTGCGTCCAGTACAGTTTAAAACTTAACTGAAAATTTTATGTGTGCTTCCCTTCCTTATCTTGGTTTATTCTCTTTTTTTGCTGAAGTTTTCTCAGAAAAGTATCCTTTTGAGTCTCTAAAAAATATCTTTGGATATAAGATCCAAACATTTCTTTTGTTTCTTGACTATTGTATGAACCGCCTTTGAAGATAATACTTACGATCTTATTTGTTAAGTCATTGACATCCTAAGTGTTTTCTATGAAACCTCTAGGATTTCTCAACCCAGCACAGCTGACATTTGGGTCTGGGTAATTCTTTGTTGGGGGCACTGCCCTGTGTGTGGTAGGAAGCTCAGCAGCATCCCTGCCTCTCCCCACTAACACTAGCAGTGTACCTACTGCTCTCCCTCACTGGCGATATCCAAAAATGTGTCCAGACATTACCAAATATCTGCTGGGACCCCAACGTCACCTCTGGTTGGGAAGCAGTGCTCTAGTTTTAGAGGTAACTATGATGAGCATCCTTGAAGAAAAATCCATGATTATCAAATAAGAAGACTAGAACAGACTGGAAATGTTCACTTAATTCTGTTGAGCTTCTGATTAGATTCAGGCAAGTTGACTTTAAGATCCCTTCTAACTTTGTGATTATAGGATTTAATAGAATCACCTATGATTAATAGGAGGACTTCCTGCTGGCTTCATCTGCTAAGAAATACTGAAACTTTATCTAATGCAGTGTCTTGGTCCTGTTTTTAG
Seq C2 exon
CTTCCCAAATGATTCAGCAGTCTCATGATAATCCAAGTAACTCTCTGTGTGAAGCACCTTTGAACATTTCACGTGATACTTTGTGTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147316-MCPH1:NM_024596:6
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.469 A=NA C2=0.516
Domain overlap (PFAM):
C1:
PF0171613=MSP=PD(26.7=46.9)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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)