MALINC1

mitosis associated long intergenic non-coding RNA 1, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 5:140071312-140114715

Previous symbols: [ "LINC01024" ]

Links

ENSG00000245146 ∙ NCBI:100505636 ∙ ∙ HGNC:49009 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MALINC1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MALINC1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

Variants in MALINC1

This is a list of pathogenic ClinVar variants found in the MALINC1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
5-140113537-CGCATGAGAGGGGGTGGCCGTGACTCGGTGTCCCCTCTTTGCAGGGGGCTCTGCTGCGCCGCGCAGGCCCCTCCTCCTACATCCTCTTTGGGGGGTCACTGGAAAGCAGAGCTTAGGCCCACTCTCTGTGCTTAGTATGGCAGACTCCTTCTCACCCCTAGTCCCCTAACTCCCCAGGCCGAGGCCGCCTAGGGTCTGCCCAACAGCGACAGCCACGGTGGTGGTGGTGGTGGTGGTGGTGGTAGCAGTGGTGGCGGCAGCAGCGGCAGCAGCAGCTGCGACGCTGCGCGTCCTGCTCCCTCTCCCCCACCCAGCCAGGGTTGTAGGGTGAGGGCCGGTGGGTGGGCGCCGCCTGGCGGGCGGGCGGACGGGGGGCTGGCAGCGGGGAGGGGGCGCAGGTCACGTGCCGGCGGGCGGGTGGGCGCGTACAGTAGGGCGCCCTGCTACTGTACTGGGGAGTCAGTGCCCTGTTACCGGGTCTCGTCTGTCTCGTCTCTCCCGCAGATCTCGCGAGAGTGGCTGACTGGCTGTGGGGGTTGCGGCGGCAGCAGGCGGAGCCGGGGAGGGAAAGCAGCGGCGGCTGAGGCGACTGAGGCGGCGGGCGGAGCGGCAGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCGGCGGCGGGGCCCCAGGGGGGCTGCAGCACGAGACGCAGGAGCTGGCCTCCAAGCGGGTGGACATCCAGAACAAGCGCTTCTACCTGGACGTGAAGCAGAACGCCAAGGGCCGCTTCCTGAAGAT-GAGGTGGG		PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	Pathogenic (May 04, 2023)
5-140114148-AGGCGGCGGCGGCGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACAGCGGCAGCGAGCAGGGTGGTGCGGCGCTGGGTTCGGGCGGCTCCCTGGGGCACCCCGGCTCGGGCTCAGGCTCCGGCGGGGGCGGTGGTGGCGGCGGGGGCGGCGGCGGCAGT-A		Inborn genetic diseases	Pathogenic (Nov 22, 2023)
5-140114160-CGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACA-C		PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	Likely pathogenic (-)
5-140114182-A-G		PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	Pathogenic/Likely pathogenic (Dec 06, 2021)
5-140114182-A-T		PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	Pathogenic (Aug 26, 2021)
5-140114183-T-C		PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	Pathogenic (Oct 07, 2022)
5-140114184-G-A		PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	Pathogenic (May 17, 2022)
5-140114183-T-TGGCG		PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	Likely pathogenic (Oct 13, 2022)
5-140114184-GGCGGA-G			Pathogenic (Nov 01, 2016)
5-140114185-GCGGAC-G		Inborn genetic diseases	Pathogenic (Dec 01, 2015)
5-140114187-G-C		PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	Uncertain significance (May 15, 2022)
5-140114187-G-GGACC			Pathogenic (Feb 01, 2019)
5-140114191-C-T		PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	Pathogenic (Apr 04, 2024)
5-140114194-GAC-G			Likely pathogenic (Jul 13, 2022)
5-140114195-ACAGCGGCAGCG-C			Pathogenic (Sep 13, 2017)
5-140114195-AC-A		PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	Likely pathogenic (-)
5-140114199-CG-C		PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	Pathogenic (Sep 28, 2022)
5-140114205-CGAGCAGGGTG-C		PURA-related disorder	Pathogenic (Sep 12, 2023)
5-140114206-G-T		PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	Pathogenic (Jun 15, 2022)
5-140114208-G-A		PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	Benign/Likely benign (Nov 07, 2023)
5-140114209-C-T			Pathogenic (May 27, 2022)
5-140114210-A-T		PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	Uncertain significance (May 18, 2023)
5-140114215-G-T		PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	Uncertain significance (Jul 06, 2022)
5-140114217-TGCGGCGCTGGGTTCGG-T			Pathogenic (Jul 14, 2016)
5-140114218-GC-G			Pathogenic (Jun 07, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP