Special

HsaINT0098629 @ hg19

Intron Retention

Gene
ENSG00000177943 | MAMDC4
Description
MAM domain containing 4 [Source:HGNC Symbol;Acc:24083]
Coordinates
chr9:139753661-139754516:+
Coord C1 exon
chr9:139753661-139753769
Coord A exon
chr9:139753770-139754337
Coord C2 exon
chr9:139754338-139754516
Length
568 bp
Sequences
Splice sites
5' ss Seq
CGGGTGAGC
5' ss Score
8.19
3' ss Seq
CATGTCCCTATGGCCCACAGGGA
3' ss Score
7.81
Exon sequences
Seq C1 exon
ATCGTGTTTGAAGCCACTCTGGGCGGCCAGCCAGCCCTGGGGCCCATTGCCCTGGATGACGTGGAGTATCTGGCTGGGCAGCATTGCCAGCAGCCTGCCCCCAGCCCGG
Seq A exon
GTGAGCCCTGGGCTGCAGTGGAGGCACGGAGGAGGGCCCAAGGGGCCAGCCTGGCTCGGGGTTTGCCAGGCTTACCAGTGTGTGGTCCCAGGAGCTGCGAGCATGCTGCACCCAGACAGGACAAGAGAGCTGCCAGGCCCAGGCCCTGTGCCCTCCTCACTCTGCCCTGCTCACCCCTGGGGCCGCTGCCTGGGCTGGGCTGTCCCTGGGGTGCAGCCTCTGGGGCCTGCCCTGCCTGGCTGTGGCCTCTGTGCTCCCTGTGCCCACACCCAGGGCAAGGTCCATCCTGGAGGAACCGCCAGCCGGGTCAGGGCAGCCACTGACTGCTCTCACTTGGTGAGGGAAAGAATCTCGCCTGGGGCCATGAGCCCCACCAAGTCTGCAGACAGCAGCTGCCTGTCTGCCAGGCCCCATCCTTGTGGTAGCAGAACCAATACCCTCTGCCTTTGAAATAGGGGTGAACCCCAGGAGCCAGCAGAGGCTGAGGGACCATGCAGCCCCAGGCTTCCTCCTTAGCCCCAGATGTGGGGGCTGCTTTGGAGGGCTCACATGTCCCTATGGCCCACAG
Seq C2 exon
GGAACACAGCCGCACCCGGGTCTGTGCCAGCTGTGGTTGGCAGTGCCCTCCTATTGCTCATGCTCCTGGTGCTGCTGGGACTTGGGGGACGGCGCTGGCTGCAGAAGAAGGGGAGCTGCCCCTTCCAGAGCAACACAGAGGCCACAGCCCCTGGCTTTGACAACATCCTTTTCAATGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000177943-MAMDC4:NM_206920:25
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.209 A=NA C2=0.120
Domain overlap (PFAM):

C1:
PF0062918=MAM=PD(18.1=81.1)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCGTGTTTGAAGCCACTCTGG
R:
CGCATTGAAAAGGATGTTGTCA
Band lengths:
287-855
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