HsaINT0098629 @ hg38
Intron Retention
Gene
ENSG00000177943 | MAMDC4
Description
MAM domain containing 4 [Source:HGNC Symbol;Acc:HGNC:24083]
Coordinates
chr9:136859209-136860064:+
Coord C1 exon
chr9:136859209-136859317
Coord A exon
chr9:136859318-136859885
Coord C2 exon
chr9:136859886-136860064
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:ENST00000485732:23
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.216 A=NA C2=0.117
Domain overlap (PFAM):
C1:
PF0062918=MAM=PD(18.1=81.1)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
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