HsaINT0106307 @ hg38
Intron Retention
Gene
ENSG00000003987 | MTMR7
Description
myotubularin related protein 7 [Source:HGNC Symbol;Acc:HGNC:7454]
Coordinates
chr8:17298030-17302280:-
Coord C1 exon
chr8:17302154-17302280
Coord A exon
chr8:17300225-17302153
Coord C2 exon
chr8:17298030-17300224
Length
1929 bp
Sequences
Splice sites
5' ss Seq
GAAGTAAGA
5' ss Score
6.42
3' ss Seq
AATTGTTATTTCTTTCTTAGAGG
3' ss Score
7.15
Exon sequences
Seq C1 exon
GTTTTGGAGTGGAATGTATAACCGCTTTGAAAAGGGGATGCAGCCCCGACAGTCAGTTACAGATTACCTAATGGCAGTGAAGGAAGAAACTCAGCAGCTAGAGGAAGAACTAGAGGCCCTGGAAGAA
Seq A exon
GTAAGACATACTTGCTTTGTTAATCTATTTTCTGTGCTTATTTCTTGAAGAGCAAGGCTTCATGAAAGCCTCTTAAGATTCAGTGCAATACAAATATTTCACATTTTTAGTCAGTAGAACACCTGAAACACAACCCCATCCAGGTCAGGACTCAGATAACCGAAGCCCAAACCTAGGCATTTAATGCATTTCACACATCTGGTTTGTGGCTCAGTTCCACAAATTTTTGGTTGTTCCTTATTTTAGGTCAACTTGTTTGGTTACTGTTATTTGAGAGTAGTAAAATTAATTTTTTTCTGGAAAGTGTGAAAAAGTAACAGAATAAAATCAAATATATGTACTTGTAAAACTCTTTCCCCACTTTTAGAAATTATGTTAACTATGATATTAATCTATAATTGGTAAAGGGGAGACTGACTGTAAAGTCTTATCTTTTGGCTTCTATGAACTTCCCTGTACTTGGACAGGGAGGTTATAATAAAATGCTTTTCCTAATTGGATAACTTTGTTTCCAATGGTACTAATGTAGTTTATGAACATCTTAGGATTCTATTAGTCTATTCTAGCAGTCTGGCTCTTTAAAACTGGCTCTTCCTTATTACAAAGTCAAAATTCCTTAGGCTGGCATTTGAGATTTTCTCTTTTCAGCTTTATTTTCCATGCTAATATTTAATGGTTTTTGCTGCTTGTATACAATTTAGACCTTCCTACCTTTGTGTTTGTCCTCTCACTGTCCCTACTCCTGTCAGGAATGCTTACTAGCTATCACCAGAATGTCCAAGTTTAAATCTTTCACAGTCCTGTTAAAATGTTCCTTCCTCCCTGAAACTTACTCTGTTCTTTTCCTTCTAACCTTACCACTTCATCCCTCTTCAAGAACTTTTGCCTTTTTGAAATTCTTACATTGCATGAACTCTGCCTCTCTCTGCTCCACTACTCCATGTTCCTTAAGGCTGGGTCTGTATTTATCTATCTCTTTTCCTCACACTGCCCAGCACAGTGCTTTTGCACATAACCTAAGTGAATGGTTTTGAATGAATACATAATACTTGATCTTATAACACCTCCTGTGTTAACATCAAAACATGAAATCTGGCGAAATGTATTCTGAACAACCCAGGTGTCCATAACATGATGAATGGGGAAACAAAATCTGGTATATCCATGTAATGGAATACTGTTCAGCCAGAAAAAGGAATGAAGTACTTGATACATGCTGTACCATGAATGAATTCTGAGAACATAAGCTAAGTGAAGGAAGCCAGATACAAAAATCCACATGTTGTATGATTCCATTCAATTTATATAAAACATCTAGACTAGGCAAATCCATAGAGATAGAAGTTGATCAGTAGTAGCCAGGGGCTGTGGGGAGATAGGAATGGGAAATGACTGCTAATGAGTATGGGGTTTTCTTTCGGCAGGGGAGGTGATGACAGTGTTTTATAATTAGTAGTGATCGTTGCACAACCTTGTGAATATAACTAAAAACCACTGAATTGTATACTTTAAAAGGGTGAGTTTCACGGTAAGTGAATTGTATCTCAGTATAAAAGTTAGATGATAAACACTTCATTCATGATTTCTAAAAAATGTTTTTTGAGTTCATGGGATGAGACTCATCATTTGAAACCATGTAGGTATAGAAAAGAGGGAGACTAGGGTTCACTGGGTGCTTCAACTGTGCTATATTGTTTATTATTATAGAAAACCTATGTCAAGGCAGGTATTATCCTTACATTAGAGATAAAGCAGGCCTCACAGATTTTGTCCAAGGTCGTGAAGTCCAGGTTTGAACTCACATCCCTCTGAGTCACATGTTCTTAACATTATACCCACGTGGGAGGTAACAAATGCTAAAGACATGCATATATAGAAAAAGATAAGTTATTTATGATTTTTCCCCTGAAATTGTTATTTCTTTCTTAG
Seq C2 exon
AGGCTGGAAAAAATTCAAAAGGTCCAGTTAAATTGCACTAAGGTGAAGAGTAAGCAAAGTGAGCCCAGCAAGCACTCAGGGTTTTCTACCTCAGACAACAGCATAGCCAACACTCCCCAGGATTACAGTGGGAATATGAAATCATTTCCATCCCGGAGCCCTTCACAAGGCGATGAAGATTCTGCTCTGATTCTAACCCAAGACAATCTGAAAAGTTCAGATCCAGATCTGTCAGCCAACAGTGACCAAGAGTCCGGGGTGGAGGATTTGAGCTGTCGGTCTCCAAGTGGTGGTGAGCATGCACCGAGTGAAGATAGTGGCAAGGACCGGGATTCTGATGAAGCCGTGTTTCTCACTGCCTGAAGTTTCCCTTTGGAGTTCCAAAGTAAAGGACACATAAGCAACACTTCCAAAAACAAGGGAACAAGGTGGTTTATTGTAAAAACAGGAAATGGTGCATGTCATTGAGAACTACTTTAATGCAGCTATGAAAAGGGAAAAAAGTGCCCAGTTCTTGATTTCTTAGATACTGAAGAGGACGTAGTCATTTCATTTATCAAATATAAGGAAAATTATTCACCATTTTGAAGCTCACCCTAGACTATGAAAATTATATTCACTGCAGAGCAATTACTTCTGTCATTACCTGAAGTGATCAGTATCTATCTTCCTTGTCATAGCATGCATCTCTCAAAAAGCCTCCACTCCTTTCCCTCACATCTGTGATCATCATGATTCTTTTAGTTCACTTCTAGATGCATATTTTGTGTTTTCTAAAGCATCTGACATTATCCTCCTTTCCGACCCTCTTATACATATTTCTAAAAACAGGCACATTGGTGAGATGCACCCTTTTTAGTTAATAGATGCATTCCTAAGGAGCTTTTAATTGCTTATCTTTCAGGCATAATCATCACTTTAACTTTTCCTTGGAGCATATATTTTGAATTGTGAGAATAATTTTGTTGCTTTTCTCTGAGATCTATAGTCTGTTTCTCCTCATTATTTAAAAATGCTAAACCTTGTATCTCACTTTTTCTCTAACACTGATTTAATAGCTAACGAGGTAGAAGCAACATTCATTCTCCTGGTCTTACATATGAATTTAAGTATCAGCTTTCTTGTAATAACCTTTTATTACTGTTCTAGAGACTACACTACCGACAGTGTGGGCCAGCCACCAGCCTGATCTCAAAGTATCACATTATAAAGTTAGTAGATAAAACATCTGTGAGTGAAAATCCAGTTTCAAGAACCAGAGAATTGGGTTGTCATGTCTGTTTAATGAAGGGAATAGGTTTTGTAATCTATCATTTTAGAAATTATGTAACTGGCTAATATGGTTTAATTAACCTTAGTAACATCTCATGACCACTGACTGCTGAAAGTTCTGAAAAGAATTTTTGTTTTGTTACACTGCACATTTAAGGGAGAGTCCCTCCCCTATCTTATGAGTTAAAAAAGACTTCACTAGGTGACCTAAATTAAACTTAGTGGGGAAAAGTGGCCATGTTTGGACATAAATAAATGGTATTCACACTGTATGGTTTTAATATATTAGTACATTCTAGAATGTAAAAGGATTAAACTTTACAATTTAGATCAATATTTTGAATATGTGAAAGGATTAATTTAAACTTTACAATTTACATCAATATTTTGAATATCTGATTTTTTTTAATGGGAGAATTATTACATTTCGCTGAAATGAGGACGAGGGCAAGAAAGCAACATTGCTGATCTCTCTAGTATGAAAGATTTGGAGGGAGTGTTGCAATATATATAAATGAAAACATTTAATTGTGTTCATCATATTTAAAAATATAGAATATATTAGAGAACTGTGATTTAAAAGTACTGTTAATGTAAAAAATAAAGCAAGTGTAATTAATTCTTTCAGAATATAAAATTTGGGCATTCTCTGCTGAGCAGTTCCCAAATTAAGTACAAGGAATGTTTATTCATTTTCTGCAATATACTATATGTAATAGGGAATACCTTGCTAAAATAAAACTTAGGATATAGTGGTAATGGCTTTCACATTTTTATAACATAACATAACTCACTTCACAACCTTCTTGGAGCTGTCCACTCTTAGAAACTCTGTTGCCTAATATTGAGGATGTGGCTTTAATTTCTTCCGTTTGACAGTGTATGTCTATAAAAACAATAAACATTTTTTAAAAAATGACAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000003987:ENST00000180173:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.241 A=NA C2=0.908
Domain overlap (PFAM):
C1:
PF093326=Mcm10=FE(30.0=100)
A:
NA
C2:
PF093326=Mcm10=PD(60.7=70.2)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGAAGAACTAGAGGCCCTGG
R:
GCCACTATCTTCACTCGGTGC
Band lengths:
347-2276
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development