HsaEX0037333 @ hg19
Exon Skipping
Gene
ENSG00000177943 | MAMDC4
Description
MAM domain containing 4 [Source:HGNC Symbol;Acc:24083]
Coordinates
chr9:139752431-139752998:+
Coord C1 exon
chr9:139752431-139752549
Coord A exon
chr9:139752638-139752728
Coord C2 exon
chr9:139752852-139752998
Length
91 bp
Sequences
Splice sites
3' ss Seq
CCCTGCCCTGCACCCGCCAGGTG
3' ss Score
7.98
5' ss Seq
CAGGTGGGA
5' ss Score
6.71
Exon sequences
Seq C1 exon
GCACCCTGCGGGTCTACCTGGAGGAGCGCGGGAGGCACCAGGTGCTCAGCCTCAGTGCCCACGGCGGGCTTGCCTGGCGCCTGGGCAGCATGGACGTGCAGGCCGAGCGAGCCTGGAGG
Seq A exon
GTGGTGTTTGAGGCAGTGGCCGCAGGCGTGGCACACTCCTACGTGGCTCTGGATGATCTGCTCCTCCAGGACGGGCCCTGCCCTCAGCCAG
Seq C2 exon
GTTCCTGTGATTTTGAGTCTGGCCTGTGTGGCTGGAGCCACCTGGCCTGGCCCGGCCTGGGCGGATACAGCTGGGACTGGGGCGGGGGAGCCACCCCCTCTCGTTACCCCCAGCCCCCTGTGGACCACACCCTGGGCACAGAGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000177943_MULTIEX2-1/5=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.160
Domain overlap (PFAM):
C1:
PF0062918=MAM=PD(31.5=67.2)
A:
PF0062918=MAM=PD(17.8=90.3)
C2:
PF0062918=MAM=PU(28.3=94.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACCAGGTGCTCAGCCTCAG
R:
GCCCCAGTCCCAGCTGTATC
Band lengths:
167-258
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- 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)