HsaEX0037338 @ hg38
Exon Skipping
Gene
ENSG00000177943 | MAMDC4
Description
MAM domain containing 4 [Source:HGNC Symbol;Acc:HGNC:24083]
Coordinates
chr9:136856018-136856826:+
Coord C1 exon
chr9:136856018-136856149
Coord A exon
chr9:136856464-136856575
Coord C2 exon
chr9:136856710-136856826
Length
112 bp
Sequences
Splice sites
3' ss Seq
CATCCCCCTACCCCATGAAGCTG
3' ss Score
4.2
5' ss Seq
GAGGTTCCT
5' ss Score
-1.44
Exon sequences
Seq C1 exon
GGCACTTCCTGTCTCTGCAGCGGGCCTGGGGGCAGCTAGGCGCTGAGGCCCGGGTCCTCACACCCCTCCTTGGCCCTTCTGGCCCCAGCTGTGAACTCCACCTGGCTTATTATTTACAGAGCCAGCCCCGAG
Seq A exon
CTGGAGTTTGTCGGTTTGGTGGACTTGGATGGCCCTGACCAGCAGGGAGCTGGGGTGGACAACGTGACCCTGAGGGACTGTAGCCCCACAGTGACCACCGAGAGAGACAGAG
Seq C2 exon
AGGTCTCCTGTAACTTTGAGCGGGACACATGCAGCTGGTACCCAGGCCACCTCTCAGACACACACTGGCGCTGGGTGGAGAGCCGCGGCCCTGACCACGACCACACCACAGGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000177943_MULTIEX3-2/6=C1-3
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.289 C2=0.287
Domain overlap (PFAM):
C1:
PF0062918=MAM=FE(53.0=100)
A:
PF0062918=MAM=PD(18.4=73.7)
C2:
PF0062918=MAM=PD(1.2=2.5),PF0062918=MAM=PU(23.4=90.0)
Other Inclusion Isoforms:
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:
CACTTCCTGTCTCTGCAGCG
R:
CTTGGCCTGTGGTGTGGTC
Band lengths:
247-359
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