HsaINT0098186 @ hg38
Intron Retention
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39463612-39468732:+
Coord C1 exon
chr1:39463612-39463686
Coord A exon
chr1:39463687-39468614
Coord C2 exon
chr1:39468615-39468732
Length
4928 bp
Sequences
Splice sites
5' ss Seq
CGGGTAAGG
5' ss Score
10.17
3' ss Seq
AGTTTCCTTTGATTCTACAGTTT
3' ss Score
6.65
Exon sequences
Seq C1 exon
GTTACAAGACAAGTGGCTCAGTGCAAATGTGCAAAAAGGTTTCAGGTGGAGCAGATCGGAGAGAATAAATACCGG
Seq A exon
GTAAGGAAGAGAAAAAGCAGTCCTTTGTTGTGGTGGTTTCTCATATGTGGCTGATCCCACCTTTTCCTCCTGATGCTTAGAGGCCCAGAGCCCATCGGACTTGAGATGTGGTCACTCTCTGACCTCATCTCTATAGATGCCAAGTGTCAGGTACCCTGTTACATCTGAAAACTAGTCCCATATCTACCTAGATAGTAGTAGTTTGTATTTAAGTTTTAAGATAGGAGATATTTCAGAGCTGTCACTTCACATCTGACAAAGTTCCTAGGGGGATGAAGGTACCTTTGGAAACAATTATATCTATTGACTGACCACTTGCCCACAAAGAGATGGTCATTGTGAGCCTGAGTGGCTCCCAGGCTAGAGAGGCCTGGGGAAACTGTGTTGAAGCCCCAACAGACACTGTGCCTGCTCTGAGCTGGGCTACAAATGGGGCCCAGGAGCACTGAGGAGACATCAGGCTCAGTGGTCTTCCCTGGAAAGCCATGCTAGGTGTGGCCATAACTGACAGTGAACTATACTTGTGTTTTAGCTTCTTTTGGGACCAGGGTCAGGGACATAGAAGGATCTGAAACAGGTCTCCTAAAATATATCAACAGCTCGTCAAGATTCTCTAAAGTCCTAAGAAAAATCTATGATTGGCAAAGAGGATTTAGATTGCACTAAGAAACACAGGAAGGTCCATGTTTCATTAGTATATCCAAAATGTCCTCAAAGTACACCAAATCTACCCCATGCTGCAGTCTCCTGAGGAGTGCTGGGTGAATCTGCTTTGAATATAACCTAGGGCATTTAGTTAATAAAGCTCCATATAATCTTATGCCTGCTTGTTGGATTTTGTTTTCTTGTTTTTTGTTTTTAATTATCTATGAGAGAAATGAATTAACAAGAACAACATAGCATGGAGAGTTAGTTCATAGTTTATAAAACCACATCCCTGGCCGGGCGTGGTGGCTCACACCTGTAATTCCAGAATTTTGGAAGGTAGAGAGGCGAGCGAGCGGATCACTTGAGGTCAGGAATTCGAGACCAACCTGGCCAACATGGTGAAACACCCTCTCTACTAATAACACAAAAATTAGCTGGGCTTGGTAGCGCATGCCTGTAATCCCAACTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACGCCGGGGTCGGAGGTTGCAGTGAGCCATGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTCAAAAAAAAAAAAAAAAATTAAAACCACATCCCTGTGGCAGGAGCTTGGTAAGAATATGTTCAGTGTGTGTCACTTTGCCAGAAAAATGTAATGATATGATTTTCATTCTTTAGTGTTAATTTGACAAAATGTTCTCTTTTTTTTTCCCCTCCTTTCCTCCATCCTTTACTCTTTACTGTCTATAGTTCTTCCTCGGCAATCAGGTACAGTGTGCCTTGCAATGTTCTCCTTCTCAATGGATATGGTCTGTGTAGCTAATGCTGCCTGTTCTTCGCTATGGGGAGAGGATGTAATCTGAAGCATGCCTGGGTCGCACCTGGTTGTCTTACCAAGTGGAGAAACTGTTGATGGGGCCAGCATTGCAAAGCTATCTTAGCAGCAAAAGAATATAAGTATAATTTTTTATAAAGGAGATGAAATGGAGGAAAGTGAAGCTATGGTATCAGTCCATTACACTTCTAAGAAGAGCCTGGTTTTGTACTTCTGTGTTAGAAGTCAGATTACCAAATAGCACAGTTCTTATTTATATTAGAATCTTTTGACAGTTAATAAATTTTGTAATGTATGGTAAGTCAATTCCTGAAGAACTTCAGTACTATTTAAATATCTTTTTAATATTTGTAGTTACTTATATTGTATGTTATAATTACAAGGTATCTGAGAAGTGTAGTGTGGAGATCGTAATTGGCCGTGGCCTGAAGTATGCTGATTATGGCCAGCCAGCCAAGATTTAATGGGACCAAATTAGACTTGCAAAAAAGATTGGATGCTTTGACTCCACTTGGTAACTCTAACCTTTCAGATCTTTTTGAGTGCTGTGGGGTCCTGTGTCCTCCAATGTGGAAGGAAGTTGCATGAGTAAAATCTGTCTCTCTGATATGAAATTATAAACACTAGTTGTTGATTTCAGGCCCTCAAACATCCCAGGCCTTGCAAGTCACTATAGAAATGTTCTAGGCAAGTGGGAAGAACAGGGGATAAGAGAAAAAAACTAAAGATGAGAACAAACTGGCTTTAAAAAAACATCATTGCTTGAGAGTGTCCAATATGCCTATTTGCTAATGACTGTGTGTGAATGCTAGGGTGCCTTTGAAGAGTCCTGACACCCTCTTCTACTGCTCCATTGATCAGGAGAGGGTCAGATGACTTCTAATGTTGAGAACGGAATTATGAAGTTCATTTTATACACAGGCAACTGAGGCCTCAAAGATCACATGCCTACTCTCACACAGCTAGTGTCAGCCACTGCAAGAACCCAAGTCTCTGTAAGAGGTTTTCCTTTTAAAAGGTGGAAACAACAGTTACTGACCCTTAGGACTCTTATTTGTTCTTTGCCTCACTGACAACCTTGTCCTACCAGGTGTGCACAGGTCTCCATTTTTAGAGCTGCCATAATCCCTCCTACCACTTGTGACTCTGGCCTCAACTTCCCCAGCTACACTGGCTGCTGGCTTGGTCAAACCTCCTTTCCCCCATAGCTTAGCAGAAACAAGTTAGAATCTTTCAAAGAGAGCTTTAGTGTGAAATTAAGGTTGGGGGGGACATGAAATATATGGAGTGATAAATTATAGTACACAGTATTCCAAGAATAAAGTACTCTTGTGGTTCCTTCCTGATTCACCCTGGGGTACACACAGGTGCATACTCCCTGCCTCTCACCCATCCAGAGAAAACCCTTTGCAGTGACTCAGGTCCAAGAGCACTGCTCTTGGGTGGAATCCTCCATATCTCTCAGAACCTCCCACAGGGCTTCTCATTTTCACTTGTGGGGCCCAGCTTCTGAGAGGGGGCTCTCACAGAGCCTGGGGGGCAGCTTCCTTCCCAGGACAGGACGTGTATTCTCTTTCAAGTCTGGGTTCAGTGCTGCTGCTACCACACAGTGCTTTTGCTGCAGTCACTTTGTATAAACATGTTTAAATTGTATCAGATGAAAGGTGTGGGACTTCTTTTATTTTCAAAGTAAAGGGCTGGGAGGGAGGATACAGTATTTTTCAATTGCCTTGCCTGTGCAAATACTGCATTTGAGTCAGAGCAGCTAAGGAATATGGAGAATTACCACAAGTATATTAATTTTGAGGGAGGATGGCTATATGACCTCAGATATCCTTTCTTGCATTTTCAATTTTTCTGCCTTGTTTTAAAGTTACAGTTGTCCTTTATAACTTTGAAAATCCTGGCCGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACGAGGTCAGGAGATCGAGACTAACCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAATACAAAAAATTAGCCGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAATGAGCCAAGATCGCGCCACTGCACTCCAGCCTAGGCGACAGAACGAGACTCCATCTCAAAAAAAAGAAAAAGAAAAAGAAAATCCTACCAACTCCATACCCGAGGAACCCTTGAATTGAATGATTTTAGGAATTCCATTTCTCCTACCAGATGTTTGTTTGTTTTGGAAACTCTGCATACTTCTCTTTTGTTGCTCCTTACTTCATTTTGGAAAGAGGGTAATTTATGCCATGAGAAACTCCAGATGTTTAGAGCTGGGAAGTAGGAATGTTTGGGCAAGAAAAAAGGGAAAACATAAATAATCAGAAATATGCTTGTTTTAGCATCTAAAATGATTATTGGATACTGTTCATAATCATCATGGGAGCTACAATTTTTAATTGCTTCAACTCAATTTTAGTATAAATATGACCTAATCATTTGTTCAGCTGAAGAAACTTTTCTGCTGGTGACACTGCAATTAGCAAATACTTCGGGTTAATTCCTGAAAACCTGATGCAGAAAATCAGATTTTCTTCTAAGCTTGTAATGATGCTTTGCAAAGGTTTCCTTAAGGCTTGAAATAGTATTCACTATTTTCCATTTAGCTTTAAAGCATACTGTATTCAGAAGTTGATATCCACAATCTTTCTTTTAGGAAAACAAATTAGCATGCCAAGAATATGAATTTTTAATTGAGCAGAATCTCTTTTAAAAAAATAAAGTGACCTAACACTTTGTCTGTTTTCCTACCTCTCCTTTTGGTGCAGAGGCAGTGGTGTGACCATTAAAAGTGATTTTTATCCCAATAGAAAGTATATTGGCCCGGCGCAGTGTCTCATGCCTGTATTCCCAGCCCTTTGGGAGGCCAAGACTGGCGGATCACGAGGTCAGGAGTTCAAGACAGCCTGGCAAACATGTTGAAACCCCGTCTCTACTAACAATACAAAAATTAGCTGGGCGTGATGGCACACGCCTAATAAACCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTACAGTAAGCTGAGATCACACTGTTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCACAAAGAAAAAAGTATATCAAGACACCAGTCTTTAGCTTGATATTTCTGCTTTTCTATTTTTAAAATCCTTTTGTGAAATATATAAAAATGCAAAATTGTGAGAGTTAACAATTCTTCTGTAGCTATCAAATTGTCATTCCTGTCTGAATACAGTCTGCTTTGGGAGAAAAACATAGATCTGCTTTAAGACATATATATTAATTAAGTTTCCTTTGATTCTACAG
Seq C2 exon
TTTGGGGATTCTCAGCAGTTGCGGCTGGTCCGTATTCTGCGCAGCACCGTGATGGTTCGCGTTGGTGGAGGATGGATGGCCTTGGATGAATTTTTAGTGAAAAATGATCCCTGCCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603:ENST00000361689:89
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.004
Domain overlap (PFAM):
C1:
PF0218712=GAS2=FE(30.4=100)
A:
NA
C2:
PF0218712=GAS2=FE(49.4=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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