Special

HsaINT0098636 @ hg19

Intron Retention

Gene
ENSG00000177943 | MAMDC4
Description
MAM domain containing 4 [Source:HGNC Symbol;Acc:24083]
Coordinates
chr9:139748991-139749302:+
Coord C1 exon
chr9:139748991-139749128
Coord A exon
chr9:139749129-139749213
Coord C2 exon
chr9:139749214-139749302
Length
85 bp
Sequences
Splice sites
5' ss Seq
AGGGTGAGG
5' ss Score
7.13
3' ss Seq
ACTCCCGTCCTTTCCCGCAGGCT
3' ss Score
12.59
Exon sequences
Seq C1 exon
GCCGCCACATAGCCACCGACTTTGAGACAGGCCTGGGCCCATGGAACCGCTCGGAAGGCTGGTCCCGGAACCACCGCGCTGGTGGTCCTGAGCGCCCCTCCTGGCCACGCCGTGACCACAGCCGGAACAGTGCACAGG
Seq A exon
GTGAGGCCCACAGAGGACCCGGCCCAGGCCCTGCCCACGCAGCCACAGCCCAGTGGCCCTGGCCCACTCCCGTCCTTTCCCGCAG
Seq C2 exon
GCTCCTTCCTGGTCTCCGTGGCCGAGCCTGGCACCCCTGCTATACTCTCCAGCCCCGAATTCCAAGCCTCAGGCACCTCCAACTGCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000177943-MAMDC4:NM_206920:8
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.633 A=NA C2=0.339
Domain overlap (PFAM):

C1:
PF0062918=MAM=PU(26.5=87.2)
A:
NA
C2:
PF0062918=MAM=FE(18.7=100)


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:
CCACATAGCCACCGACTTTGA
R:
GAGAGTATAGCAGGGGTGCCA
Band lengths:
183-268
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