Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55180
Gene name	Lines homolog 1
Gene symbol	LINS1
Synonyms (NCBI Gene)	LINSMRT27WINS1
Chromosome	15
Chromosome location	15q26.3
Summary	The Drosophila segment polarity gene lin encodes a protein, lines, which plays important roles in development of the epidermis and hindgut. This gene encodes a protein containing a lines-like domain. This gene is located on chromosome 15 and clustered wit

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs144513217	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs149644940	A>C	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs587777225	CATG>-	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs587777226	CTTTC>-	Pathogenic	Splice donor variant, coding sequence variant, non coding transcript variant
rs764442764	A>-	Likely-pathogenic	5 prime UTR variant, frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs767760664	CATCT>-	Likely-pathogenic	5 prime UTR variant, frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs869312932	C>A	Pathogenic	Splice donor variant
rs1057519019	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1131691716	C>A,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs1596890522	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1596891223	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained

143

Show/Hide all (143)

miRTarBase ID	miRNA	Experiments	Reference
MIRT607248	hsa-miR-345-3p	HITS-CLIP	23824327
MIRT607247	hsa-miR-4732-3p	HITS-CLIP	23824327
MIRT607246	hsa-miR-125a-5p	HITS-CLIP	23824327
MIRT607245	hsa-miR-125b-5p	HITS-CLIP	23824327
MIRT607244	hsa-miR-4319	HITS-CLIP	23824327
MIRT607243	hsa-miR-3183	HITS-CLIP	23824327
MIRT607242	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT607241	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT607240	hsa-miR-4469	HITS-CLIP	23824327
MIRT607239	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT607238	hsa-miR-4287	HITS-CLIP	23824327
MIRT607237	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT607236	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT607235	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT607234	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT607233	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT631012	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT631011	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT628498	hsa-miR-5681a	HITS-CLIP	23824327
MIRT628497	hsa-miR-6730-5p	HITS-CLIP	23824327
MIRT631010	hsa-miR-6740-3p	HITS-CLIP	23824327
MIRT607232	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT607231	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT607230	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT607229	hsa-miR-4279	HITS-CLIP	23824327
MIRT607228	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT631009	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT628496	hsa-miR-488-3p	HITS-CLIP	23824327
MIRT607248	hsa-miR-345-3p	HITS-CLIP	23824327
MIRT607247	hsa-miR-4732-3p	HITS-CLIP	23824327
MIRT607246	hsa-miR-125a-5p	HITS-CLIP	23824327
MIRT607245	hsa-miR-125b-5p	HITS-CLIP	23824327
MIRT607244	hsa-miR-4319	HITS-CLIP	23824327
MIRT607243	hsa-miR-3183	HITS-CLIP	23824327
MIRT607242	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT607241	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT607240	hsa-miR-4469	HITS-CLIP	23824327
MIRT607239	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT607238	hsa-miR-4287	HITS-CLIP	23824327
MIRT607237	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT607236	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT607235	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT607234	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT607233	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT628498	hsa-miR-5681a	HITS-CLIP	23824327
MIRT628497	hsa-miR-6730-5p	HITS-CLIP	23824327
MIRT607232	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT607231	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT607230	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT607228	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT628496	hsa-miR-488-3p	HITS-CLIP	23824327
MIRT607248	hsa-miR-345-3p	HITS-CLIP	23824327
MIRT607247	hsa-miR-4732-3p	HITS-CLIP	23824327
MIRT607246	hsa-miR-125a-5p	HITS-CLIP	23824327
MIRT607245	hsa-miR-125b-5p	HITS-CLIP	23824327
MIRT607244	hsa-miR-4319	HITS-CLIP	23824327
MIRT607243	hsa-miR-3183	HITS-CLIP	23824327
MIRT607242	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT607241	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT607240	hsa-miR-4469	HITS-CLIP	23824327
MIRT607239	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT607238	hsa-miR-4287	HITS-CLIP	23824327
MIRT607237	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT607236	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT607233	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT628498	hsa-miR-5681a	HITS-CLIP	23824327
MIRT628497	hsa-miR-6730-5p	HITS-CLIP	23824327
MIRT607232	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT607231	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT607230	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT628496	hsa-miR-488-3p	HITS-CLIP	23824327
MIRT607248	hsa-miR-345-3p	HITS-CLIP	23824327
MIRT607247	hsa-miR-4732-3p	HITS-CLIP	23824327
MIRT607246	hsa-miR-125a-5p	HITS-CLIP	23824327
MIRT607245	hsa-miR-125b-5p	HITS-CLIP	23824327
MIRT607244	hsa-miR-4319	HITS-CLIP	23824327
MIRT607243	hsa-miR-3183	HITS-CLIP	23824327
MIRT607242	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT607241	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT607240	hsa-miR-4469	HITS-CLIP	23824327
MIRT607239	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT607238	hsa-miR-4287	HITS-CLIP	23824327
MIRT607237	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT607236	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT607235	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT607234	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT607233	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT631012	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT631011	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT628498	hsa-miR-5681a	HITS-CLIP	23824327
MIRT628497	hsa-miR-6730-5p	HITS-CLIP	23824327
MIRT631010	hsa-miR-6740-3p	HITS-CLIP	23824327
MIRT607232	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT607231	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT607230	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT607229	hsa-miR-4279	HITS-CLIP	23824327
MIRT607228	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT631009	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT628496	hsa-miR-488-3p	HITS-CLIP	23824327
MIRT607248	hsa-miR-345-3p	HITS-CLIP	23824327
MIRT607247	hsa-miR-4732-3p	HITS-CLIP	23824327
MIRT607246	hsa-miR-125a-5p	HITS-CLIP	23824327
MIRT607245	hsa-miR-125b-5p	HITS-CLIP	23824327
MIRT607244	hsa-miR-4319	HITS-CLIP	23824327
MIRT607240	hsa-miR-4469	HITS-CLIP	23824327
MIRT607239	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT607238	hsa-miR-4287	HITS-CLIP	23824327
MIRT607237	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT607236	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT607235	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT607234	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT607233	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT628498	hsa-miR-5681a	HITS-CLIP	23824327
MIRT628497	hsa-miR-6730-5p	HITS-CLIP	23824327
MIRT607232	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT607230	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT607228	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT628496	hsa-miR-488-3p	HITS-CLIP	23824327
MIRT607248	hsa-miR-345-3p	HITS-CLIP	24906430
MIRT607247	hsa-miR-4732-3p	HITS-CLIP	24906430
MIRT607246	hsa-miR-125a-5p	HITS-CLIP	24906430
MIRT607245	hsa-miR-125b-5p	HITS-CLIP	24906430
MIRT607244	hsa-miR-4319	HITS-CLIP	24906430
MIRT607243	hsa-miR-3183	HITS-CLIP	24906430
MIRT607242	hsa-miR-4723-3p	HITS-CLIP	24906430
MIRT607241	hsa-miR-6769b-3p	HITS-CLIP	24906430
MIRT607240	hsa-miR-4469	HITS-CLIP	24906430
MIRT607239	hsa-miR-7113-3p	HITS-CLIP	24906430
MIRT607238	hsa-miR-4287	HITS-CLIP	24906430
MIRT607237	hsa-miR-4685-3p	HITS-CLIP	24906430
MIRT607236	hsa-miR-6845-3p	HITS-CLIP	24906430
MIRT607235	hsa-miR-7110-3p	HITS-CLIP	24906430
MIRT607234	hsa-miR-6817-3p	HITS-CLIP	24906430
MIRT607233	hsa-miR-4766-5p	HITS-CLIP	24906430
MIRT607232	hsa-miR-670-5p	HITS-CLIP	24906430
MIRT607231	hsa-miR-7111-3p	HITS-CLIP	24906430
MIRT607230	hsa-miR-6867-3p	HITS-CLIP	24906430
MIRT607229	hsa-miR-4279	HITS-CLIP	24906430
MIRT607228	hsa-miR-6873-3p	HITS-CLIP	24906430
MIRT562777	hsa-miR-380-3p	PAR-CLIP	20371350
MIRT562776	hsa-miR-2054	PAR-CLIP	20371350
MIRT562775	hsa-miR-510-3p	PAR-CLIP	20371350
MIRT562774	hsa-miR-129-5p	PAR-CLIP	20371350

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GO ID	Ontology	Definition	Evidence	Reference
GO:0050890	Process	Cognition	IMP	23773660

MIM	HGNC	e!Ensembl
610350	30922	ENSG00000140471

Q8NG48

Protein name

Protein Lines homolog 1 (Wnt-signaling molecule Lines homolog 1)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14694	LINES_N	193 → 542	Lines N-terminus	Family
PF14695	LINES_C	712 → 748	Lines C-terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in adult testis, prostate, prostate, spleen, thymus, skeletal muscle, fetal kidney and brain. {ECO:0000269|PubMed:12119551}.

Sequence

MKVFCEVLEELYKKVLLGATLENDSHDYIFYLNPAVSDQDCSTATSLEWANTCGIQGRHQ
PISVGVAPIAVAPVCLKTNSQMSGSREVMLLQLTVIKVMTTRILSVKTEFHAKEQYRDVI
KILLESAKVDSKLICMFQNSDKLLSHMAAQCLALLLYFQLREKITLSNSWIAFCQKNLSE
YSESNKAIYCLWTLTAIIKEIFKDSCSQKTEILKQFLTHFDTIFEVFYNSLFSQHFENCR
DTSKIVNILMCFLDLLELLIASRIHLKLHFTCQRILFLKPSCMLEVITWPIQAFVKRKVI
IFLKKCLLCKVGEDLCRGSVPALMPPDHHVAVDMLALANAVLQAVNSGLLKTLSVYEKHS
FFGGDEVQPECELITSPDHVILRAASLVIMKSLEIKFQNYSSASEVKVDLQRFMSELLTF
LKPHLQPSLQLHNPCKWLSRVFIEQDDDMLEAAKASLGIYLTLTRGCEATESLTQGKEMW
DHHTHENGYNPHCIFLFFLKNIGFDSTVLLDFLISSETCFLEYFVRYLKLLQKDWDNFFT
ICNNFDATESKYDISICGCVPSLVQDQSSNQTIPHRLTAPHSHRDVCARHSWASDAPSEP
LKAVMSKGAHTMCASSLSSPRASQSLVDYDSSDDSDVESTEQCLANSKQTSLHQQATKEI
QDAAGTSRDKKEFSLEPPSRPLVLKEFDTAFSFDCEVAPNDVVSEVGIFYRIVKCFQELQ
DAICRLQKKNLFPYNPTALLKLLKYIEVISNKTMNTL

Sequence length

757

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Pathogenic	rs587777226	RCV004798777	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal recessive 27	Pathogenic; Likely pathogenic	rs587777225, rs587777226, rs2141262985, rs1163046936, rs2141261531, rs2505319687, rs2505377753, rs149644940, rs2038074697, rs1375900032, rs2549193603, rs1057519019, rs1596891223, rs768006727, rs1198074890, rs747412555 View all (1 more)	RCV000106305 RCV000106306 RCV001808290 RCV002226819 RCV002244556 View all (11 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 27	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LINS1-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (33)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	23773660, 28181389		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	23773660	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27	Mental retardation	UNIPROT_DG	21937992, 23773660, 28181389		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27	Mental retardation	GENOMICS_ENGLAND_DG	30090841		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27	Mental retardation	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	23773660		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	23773660	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

LINS1 (lines homolog 1)