Gene Gene information from NCBI Gene database.
Entrez ID 57688
Gene name Zinc finger SWIM-type containing 6
Gene symbol ZSWIM6
Synonyms (NCBI Gene)
AFNDNEDMAGA
Chromosome 5
Chromosome location 5q12.1
Summary The protein encoded by this gene contains a zinc finger SWI2/SNF2 and MuDR (SWIM) domain. Proteins with SWIM domains have been found in a diverse number of species and are predicted to interact with DNA or proteins. Mutations in this gene result in acrome
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs587777695 C>T Pathogenic-likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs1554041295 C>T Pathogenic Coding sequence variant, stop gained
rs1554041457 A>G Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
402
miRTarBase ID miRNA Experiments Reference
MIRT016083 hsa-miR-374b-5p Sequencing 20371350
MIRT050654 hsa-miR-18a-5p CLASH 23622248
MIRT042841 hsa-miR-324-3p CLASH 23622248
MIRT037981 hsa-miR-502-3p CLASH 23622248
MIRT096831 hsa-miR-6074 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0007399 Process Nervous system development IEA
GO:0008270 Function Zinc ion binding IEA
GO:0021773 Process Striatal medium spiny neuron differentiation ISS
GO:0031462 Component Cul2-RING ubiquitin ligase complex IBA
GO:0046872 Function Metal ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615951 29316 ENSG00000130449
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HCJ5
Protein name Zinc finger SWIM domain-containing protein 6
Protein function involved in nervous system development, important for striatal morphology and motor regulation.
Family and domains
Sequence
MAERGQQPPPAKRLCCRPGGGGGGGGSSGGGGGAGGGYSSACRPGPRAGGAAAAAACGGG
AALGLLPPGKTQSPESLLDIAARRVAEKWPFQRVEERFERIPEPVQRRIVYWSFPRSERE
ICMYSSFNTGGGAAGGPGDDSGGGGGAGGGGGGGSSSSPAATSAAATSAAAAAAAAAAAA
AAAAGAGAPSVGAAGAADGGDETRLPFRRGIALLESGCVDNVLQVGFHLSGTVTEPAIQS
EPETVCNVAISFDRCKITSVTCSCGNKDIFYCAHVVALSLYRIRKPDQVKLHLPISETLF
QMNRDQLQKFVQYLITVHHTEVLPTAQKLADEILSQNSEINQVHGAPDPTAGASIDDENC
WHLDEEQVQEQVKLFLSQGGYHGSGKQLNLLFAKVREMLKMRDSNGARMLTLITEQFMAD
PRLSLWRQQGTAMTDKYRQLWDELGALWMCIVLNPHCKLEQKASWLKQLKKWNSVDVCPW
EDGNHGSELPNLTNALPQGANANQDSSNRPHRTVFTRAIEACDLHWQDSHLQHIISSDLY
TNYCYHDDTENSLFDSRGWPLWHEHVPTACARVDALRSHGYPREALRLAIAIVNTLRRQQ
QKQLEMFRTQKKELPHKNITSITNLEGWVGHPLDPVGTLFSSLMEACRIDDENLSGFSDF
TENMGQCKSLEYQHLPAHKFLEEGESYLTLAVEVALIGLGQQRIMPDGLYTQEKVCRNEE
QLISKLQEIELDDTLVKIFRKQAVFLLEAGPYSGLGEIIHRESVPMHTFAKYLFTSLLPH
DAELAYKIALRAMRLLVLESTAPSGDLTRPHHIASVVPNRYPRWFTLSHIESQQCELAST
MLTAAKGDVRRLETVLESIQKNIHSSSHIFKLAQDAFKIATLMDSLPDITLLKVSLELGL
QVMRMTLSTLNWRRREMVRWLVTCATEVGVYALDSIMQTWFTLFTPTEATSIVATTVMSN
STIVRLHLDCHQQEKLASSARTLALQCAMKDPQNCALSALTLCEKDHIAFETAYQIVLDA
ATTGMSYTQLFTIARYMEHRGYPMRAYKLATLAMTHLNLSYNQDTHPAINDVLWACALSH
SLGKNELAAIIPLVVKSVKCATVLSDILRRCTLTTPGMVGLHGRRNSGKLMSLDKAPLRQ
LLDATIGAYINTTHSRLTHISPRHYSEFIEFLSKARETFLMAHDGHIQFTQFIDNLKQIY
KGKKKLMMLVRERFG
Sequence length 1215
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Acromelic frontonasal dysostosis Likely pathogenic; Pathogenic rs587777695 RCV000143865
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features Likely pathogenic; Pathogenic rs1554041295 RCV000578491
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ZSWIM6 related intellectual disability Likely pathogenic; Pathogenic rs1554041295 RCV000590997
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ZSWIM6-related disorder Likely pathogenic; Pathogenic rs1554041295 RCV003403147
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ACROMELIC FRONTONASAL DYSOSTOSIS Acromelic Frontonasal Dysostosis BEFREE 25105228, 26706854, 28433741, 29198722
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ACROMELIC FRONTONASAL DYSOSTOSIS Acromelic Frontonasal Dysostosis GENOMICS_ENGLAND_DG 25105228, 26706854
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ACROMELIC FRONTONASAL DYSOSTOSIS Acromelic Frontonasal Dysostosis CLINVAR_DG 25105228, 26706854
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ACROMELIC FRONTONASAL DYSOSTOSIS Acromelic Frontonasal Dysostosis UNIPROT_DG 25105228
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acromelic Frontonasal Dysostosis Acromelic frontonasal dysostosis Pubtator 26706854, 29198722 Associate
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ACROMELIC FRONTONASAL DYSOSTOSIS Acromelic Frontonasal Dysostosis CTD_human_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acromelic frontonasal dysplasia Acromelic Frontonasal Dysostosis ORPHANET_DG 25105228
★☆☆☆☆
Found in Text Mining only
Acromelic frontonasal dysplasia Acromelic Frontonasal Dysostosis Orphanet
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Behavioral tic Tourette syndrome HPO_DG
★☆☆☆☆
Found in Text Mining only