Special

HsaINT0098624 @ hg19

Intron Retention

Gene
ENSG00000177943 | MAMDC4
Description
MAM domain containing 4 [Source:HGNC Symbol;Acc:24083]
Coordinates
chr9:139752431-139752728:+
Coord C1 exon
chr9:139752431-139752549
Coord A exon
chr9:139752550-139752637
Coord C2 exon
chr9:139752638-139752728
Length
88 bp
Sequences
Splice sites
5' ss Seq
AGGGTGAGT
5' ss Score
9.25
3' ss Seq
CCCTGCCCTGCACCCGCCAGGTG
3' ss Score
7.98
Exon sequences
Seq C1 exon
GCACCCTGCGGGTCTACCTGGAGGAGCGCGGGAGGCACCAGGTGCTCAGCCTCAGTGCCCACGGCGGGCTTGCCTGGCGCCTGGGCAGCATGGACGTGCAGGCCGAGCGAGCCTGGAGG
Seq A exon
GTGAGTGCAGGGTGGGGTGCCCCTCCCCCTCCCCCTCCCCCGAGGGCTGCCTGGACCCGCTGAGGCTGCCCTGCCCTGCACCCGCCAG
Seq C2 exon
GTGGTGTTTGAGGCAGTGGCCGCAGGCGTGGCACACTCCTACGTGGCTCTGGATGATCTGCTCCTCCAGGACGGGCCCTGCCCTCAGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000177943-MAMDC4:NM_206920:20
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

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

C1:
PF0062918=MAM=PD(31.5=67.2)
A:
NA
C2:
PF0062918=MAM=PD(17.8=90.3)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGGTCTACCTGGAGGAGC
R:
TCATCCAGAGCCACGTAGGAG
Band lengths:
167-255
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