HsaEX6064103 @ hg19
Exon Skipping
Gene
ENSG00000177943 | MAMDC4
Description
MAM domain containing 4 [Source:HGNC Symbol;Acc:24083]
Coordinates
chr9:139750916-139751493:+
Coord C1 exon
chr9:139750916-139751027
Coord A exon
chr9:139751162-139751278
Coord C2 exon
chr9:139751359-139751493
Length
117 bp
Sequences
Splice sites
3' ss Seq
CCACCTGGCCCCACCCCCAGAGG
3' ss Score
7.18
5' ss Seq
AAGGTAGGA
5' ss Score
9.45
Exon sequences
Seq C1 exon
CTGGAGTTTGTCGGTTTGGTGGACTTGGATGGCCCTGACCAGCAGGGAGCTGGGGTGGACAACGTGACCCTGAGGGACTGTAGCCCCACAGTGACCACCGAGAGAGACAGAG
Seq A exon
AGGTCTCCTGTAACTTTGAGCGGGACACATGCAGCTGGTACCCAGGCCACCTCTCAGACACACACTGGCGCTGGGTGGAGAGCCGCGGCCCTGACCACGACCACACCACAGGCCAAG
Seq C2 exon
GCCACTTTGTGCTCCTGGACCCCACAGACCCCCTGGCCTGGGGCCACAGTGCCCACCTGCTCTCCAGGCCCCAGGTGCCAGCAGCACCCACGGAGTGTCTCAGCTTCTGGTACCACCTCCATGGGCCCCAGATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000177943-'20-23,'20-22,21-23=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.289 A=0.263 C2=0.087
Domain overlap (PFAM):
C1:
PF0062918=MAM=PD(18.4=73.7)
A:
PF0062918=MAM=PD(1.2=2.5),PF0062918=MAM=PU(23.4=90.0)
C2:
PF0062918=MAM=FE(29.2=100)
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:
TGGAGTTTGTCGGTTTGGTGG
R:
AATCTGGGGCCCATGGAGG
Band lengths:
245-362
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)