Special

HsaINT0098620 @ hg38

Intron Retention

Gene
ENSG00000177943 | MAMDC4
Description
MAM domain containing 4 [Source:HGNC Symbol;Acc:HGNC:24083]
Coordinates
chr9:136857165-136857586:+
Coord C1 exon
chr9:136857165-136857298
Coord A exon
chr9:136857299-136857366
Coord C2 exon
chr9:136857367-136857586
Length
68 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
3' ss Seq
CTGACACCCTCCACCCCCAGCTG
3' ss Score
8.15
Exon sequences
Seq C1 exon
GGACTCTGCGCCTAGCCATGAGACGGGAAGGGGAGGAGACACACCTGTGGTCGCGGTCAGGCACCCAGGGCAACCGCTGGCACGAGGCCTGGGCCACCCTTTCCCACCAGCCTGGCTCCCATGCCCAGTACCAG
Seq A exon
GTGAGGCCTGGCACCCGGGTGGGAGGACAGGGCAGGGCCCCTGGCCAGCTGACACCCTCCACCCCCAG
Seq C2 exon
CTGCTGTTCGAGGGCCTCCGGGACGGATACCACGGCACCATGGCGCTGGACGATGTGGCCGTGCGGCCGGGCCCCTGCTGGGCCCCTAATTACTGCTCCTTTGAGGACTCAGACTGCGGCTTCTCCCCTGGAGGCCAAGGTCTCTGGAGGCGGCAGGCCAATGCCTCGGGCCATGCTGCCTGGGGCCCCCCAACAGACCATACCACTGAGACAGCCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000177943:ENST00000485732:16
Average complexity
IR
Mappability confidence:
NA
Protein Impact

In the CDS, with uncertain impact

No structure available
Features
Disorder rate (Iupred):
  C1=0.341 A=NA C2=0.324
Domain overlap (PFAM):

C1:
PF0062918=MAM=FE(28.6=100)
A:
NA
C2:
PF0062918=MAM=PD(17.5=36.5),PF0062918=MAM=PU(26.8=56.8)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTAGCCATGAGACGGGAAGG
R:
CCATGGTGCCGTGGTATCC
Band lengths:
167-235
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development