Special

HsaEX6064106 @ hg38

Exon Skipping

Gene
ENSG00000177943 | MAMDC4
Description
MAM domain containing 4 [Source:HGNC Symbol;Acc:HGNC:24083]
Coordinates
chr9:136854762-136855338:+
Coord C1 exon
chr9:136854762-136854850
Coord A exon
chr9:136854937-136855110
Coord C2 exon
chr9:136855254-136855338
Length
174 bp
Sequences
Splice sites
3' ss Seq
GCCAGCTCTTGGTTCCACAGCTG
3' ss Score
6.87
5' ss Seq
CAGGTAGGG
5' ss Score
9.46
Exon sequences
Seq C1 exon
GCTCCTTCCTGGTCTCCGTGGCCGAGCCTGGCACCCCTGCTATACTCTCCAGCCCCGAATTCCAAGCCTCAGGCACCTCCAACTGCTCG
Seq A exon
CTGGTCTTCTATCAGTACCTGAGTGGGTCTGAGGCTGGCTGCCTCCAGCTGTTCCTGCAGACTCTGGGGCCCGGCGCCCCCCGGGCCCCCGTCCTGCTGCGGAGGCGCCGAGGGGAGCTGGGGACCGCCTGGGTCCGAGACCGTGTTGACATCCAGAGCGCCTACCCCTTCCAG
Seq C2 exon
ATCCTCCTGGCCGGGCAGACAGGCCCGGGGGGCGTCGTGGGTCTGGACGACCTCATCCTGTCTGACCACTGCAGACCAGTCTCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000177943-'19-19,'19-17,20-19=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.333 A=0.086 C2=0.000
Domain overlap (PFAM):

C1:
PF0062918=MAM=FE(18.7=100)
A:
PF0062918=MAM=FE(36.8=100)
C2:
PF0062918=MAM=PD(16.1=86.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCCTTCCTGGTCTCCGTGG
R:
GAGACTGGTCTGCAGTGGTCA
Band lengths:
171-345
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains