Special

HsaEX0037335 @ hg38

Exon Skipping

Gene
ENSG00000177943 | MAMDC4
Description
MAM domain containing 4 [Source:HGNC Symbol;Acc:HGNC:24083]
Coordinates
chr9:136858719-136859317:+
Coord C1 exon
chr9:136858719-136858853
Coord A exon
chr9:136859005-136859132
Coord C2 exon
chr9:136859209-136859317
Length
128 bp
Sequences
Splice sites
3' ss Seq
CGCCCTGGCCCTGCTCTCAGACA
3' ss Score
8.03
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
GCCACTTTGCCTTCTTTGAAACTGGCGTGCTGGGCCCCGGGGGCCGGGCCGCCTGGCTGCGCAGCGAGCCTCTGCCGGCCACCCCAGCCTCCTGCCTCCGCTTCTGGTACCACATGGGTTTTCCTGAGCACTTCT
Seq A exon
ACAAGGGGGAGCTGAAGGTACTGCTGCACAGTGCTCAGGGCCAGCTGGCTGTGTGGGGCGCAGGCGGGCATCGGCGGCACCAGTGGCTGGAGGCCCAGGTGGAGGTAGCCAGTGCCAAGGAGTTCCAG
Seq C2 exon
ATCGTGTTTGAAGCCACTCTGGGCGGCCAGCCAGCCCTGGGGCCCATTGCCCTGGATGACGTGGAGTATCTGGCTGGGCAGCATTGCCAGCAGCCTGCCCCCAGCCCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000177943_MULTIEX1-5/7=4-6
Average complexity
C1*
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=0.216
Domain overlap (PFAM):

C1:
PF0062918=MAM=FE(27.1=100)
A:
PF0062918=MAM=FE(25.3=100)
C2:
PF0062918=MAM=PD(18.1=81.1)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGCCTTCTTTGAAACTGGCG
R:
CAGGCTGCTGGCAATGCT
Band lengths:
226-354
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