TBCK (TBC1 domain containing kinase)

Gene

• Entrez ID: 93627
• Gene name: TBC1 domain containing kinase
• Gene symbol: TBCK
• Synonyms (NCBI Gene): FERRY1, Fy-1, HSPC302, IHPRF3, TBCKL
• Chromosome: 4
• Chromosome location: 4q24
• Summary: This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mam

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34840340	T>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs62321379	T>C	Likely-pathogenic	Splice acceptor variant
rs374319146	C>A,T	Likely-pathogenic, pathogenic	Intron variant, splice donor variant
rs376699648	T>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs575822089	G>A	Pathogenic, likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant
rs746860249	T>-,TT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs760715215	C>T	Likely-pathogenic	Splice donor variant
rs762552974	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs771481304	CATT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs869320711	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs869320769	->AT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs909658169	AAG>-	Likely-pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs1057518332	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1131691329	->A	Pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs1303851095	C>T	Pathogenic	Splice donor variant
rs1560755661	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC>-	Pathogenic	Downstream transcript variant, splice donor variant, genic downstream transcript variant, non coding transcript variant, splice acceptor variant, coding sequence variant
rs1560929669	ATTA>-	Likely-pathogenic	Intron variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1579198426	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs1579198447	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs1579257340	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1579342363	->TTAA	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1579391376	C>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, splice acceptor variant
rs1579395680	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018768	hsa-miR-335-5p	Microarray	18185580
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT630202	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT630201	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT620948	hsa-miR-1262	HITS-CLIP	23824327
MIRT620947	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT620946	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT620945	hsa-miR-6741-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT630202	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT630201	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT630202	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT630201	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT620948	hsa-miR-1262	HITS-CLIP	23824327
MIRT620947	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT620946	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT620945	hsa-miR-6741-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT630202	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT630201	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT620948	hsa-miR-1262	HITS-CLIP	23824327
MIRT620947	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT620946	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT620945	hsa-miR-6741-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT630202	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT630201	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT630202	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT630201	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT620949	hsa-miR-1284	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT620948	hsa-miR-1262	HITS-CLIP	23824327
MIRT620947	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT620946	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT620945	hsa-miR-6741-5p	HITS-CLIP	23824327
MIRT611773	hsa-miR-8485	HITS-CLIP	23824327
MIRT611772	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611771	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611770	hsa-miR-603	HITS-CLIP	23824327
MIRT611768	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT611769	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT611767	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT611766	hsa-miR-3941	HITS-CLIP	23824327
MIRT611765	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT611764	hsa-miR-337-3p	HITS-CLIP	23824327
MIRT1414192	hsa-miR-203	CLIP-seq
MIRT1414193	hsa-miR-4424	CLIP-seq
MIRT1414194	hsa-miR-3120-5p	CLIP-seq
MIRT1414195	hsa-miR-3169	CLIP-seq
MIRT1414196	hsa-miR-4700-3p	CLIP-seq
MIRT1414197	hsa-miR-4802-5p	CLIP-seq
MIRT1414198	hsa-miR-765	CLIP-seq
MIRT1414194	hsa-miR-3120-5p	CLIP-seq
MIRT2440920	hsa-miR-1208	CLIP-seq
MIRT2440921	hsa-miR-3647-3p	CLIP-seq
MIRT2440922	hsa-miR-3653	CLIP-seq
MIRT2440923	hsa-miR-3658	CLIP-seq
MIRT2440924	hsa-miR-4291	CLIP-seq
MIRT2440925	hsa-miR-545	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	NAS	12471243
GO:0005096	Function	GTPase activator activity	IBA
GO:0005515	Function	Protein binding	IPI	26496610, 37267906
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	NAS	12471243
GO:0005737	Component	Cytoplasm	IDA	24576458
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006468	Process	Protein phosphorylation	NAS	12471243
GO:0008283	Process	Cell population proliferation	IMP	23977024
GO:0030036	Process	Actin cytoskeleton organization	IMP	23977024
GO:0030496	Component	Midbody	IDA	24576458
GO:0030496	Component	Midbody	IEA
GO:0032006	Process	Regulation of TOR signaling	IMP	23977024
GO:0072686	Component	Mitotic spindle	IDA	24576458

Other IDs

• MIM: 616899
• HGNC: 28261
• e!Ensembl: ENSG00000145348

Protein

• UniProt ID: Q8TEA7
• Protein name: TBC domain-containing protein kinase-like protein (FERRY endosomal RAB5 effector complex subunit 1) (Fy-1)
• Protein function: Component of the FERRY complex (Five-subunit Endosomal Rab5 and RNA/ribosome intermediary) (PubMed:37267905). The FERRY complex directly interacts with mRNAs and RAB5A, and functions as a RAB5A effector involved in the localization and the distr
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	32 → 273	Protein kinase domain	Domain
  PF00566	RabGAP-TBC	470 → 671	Rab-GTPase-TBC domain	Family
  PF00581	Rhodanese	784 → 883	Rhodanese-like domain	Domain

• Sequence:

  MFPLKDAEMGAFTFFASALPHDVCGSNGLPLTPNSIKILGRFQILKTITHPRLCQYVDIS
  RGKHERLVVVAEHCERSLEDLLRERKPVSCSTVLCIAFEVLQGLQYMNKHGIVHRALSPH
  NILLDRKGHIKLAKFGLYHMTAHGDDVDFPIGYPSYLAPEVIAQGIFKTTDHMPSKKPLP
  SGPKSDVWSLGIILFELCVGRKLFQSLDISERLKFLLTLDCVDDTLIVLAEEHGCLDIIK
  ELPETVIDLLNKCLTFHPSKRPTPDQLMKDKVFSEVSPLYTPFTKPASLFSSSLRCADLT
  LPEDISQLCKDINNDYLAERSIEEVYYLWCLAGGDLEKELVNKEIIRSKPPICTLPNFLF
  EDGESFGQGRDRSSLLDDTTVTLSLCQLRNRLKDVGGEAFYPLLEDDQSNLPHSNSNNEL
  SAAATLPLIIREKDTEYQLNRIILFDRLLKAYPYKKNQIWKEARVDIPPLMRGLTWAALL
  GVEGAIHAKYDAIDKDTPIPTDRQIEVDIPRCHQYDELLSSPEGHAKFRRVLKAWVVSHP
  DLVYWQGLDSLCAPFLYLNFNNEALAYACMSAFIPKYLYNFFLKDNSHVIQEYLTVFSQM
  IAFHDPELSNHLNEIGFIPDLYAIPWFLTMFTHVFPLHKIFHLWDTLLLGNSSFPFCIGV
  AILQQLRDRLLANGFNECILLFSDLPEIDIERCVRESINLFCWTPKSATYRQHAQPPKPS
  SDSSGGRSSAPYFSAECPDPPKTDLSRESIPLNDLKSEVSPRISAEDLIDLCELTVTGHF
  KTPSKKTKSSKPKLLVVDIRNSEDFIRGHISGSINIPFSAAFTAEGELTQGPYTAMLQNF
  KGKVIVIVGHVAKHTAEFAAHLVKMKYPRICILDGGINKIKPTGLLTIPSPQI

• Sequence length: 893

Associated diseases

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs763057505, rs374319146	RCV001814557 RCV001814075	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Pathogenic	rs374319146	RCV005888593	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs762552974	RCV001775126	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	Pathogenic	rs771481304	RCV005625451	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	Likely pathogenic; Pathogenic	rs1560911619, rs1762560983, rs759892467, rs763057505, rs2150053706, rs775034792, rs2150010400, rs2150010260, rs2149737591, rs1750962854, rs778000956, rs903296221, rs774755464, rs2149518765, rs1174436721, rs1452578209, rs758167759, rs1176128034, rs374319146, rs2479212710, rs1324981567, rs1761469644, rs758791315, rs749437743, rs1183077355, rs2477000006, rs575822089, rs376699648, rs869320769, rs62321379, rs771481304, rs746860249, rs2477024261, rs2477382277, rs749416609, rs1004103406, rs1057518332, rs762552974, rs1131691329, rs1560755661, rs1560929669, rs1579395680, rs1303851095, rs1579391376, rs1579257340, rs1759337270, rs765407874, rs1750958862, rs1759036277, rs780527809, rs1767828321, rs1750971659, rs925343986	RCV001336265 RCV001336264 RCV005253853 RCV004728762 RCV001544498 RCV005253877 RCV001783850 RCV005253891 RCV001789736 RCV001789737 RCV005253892 RCV004597558 RCV005253919 RCV005253985 RCV005254003 RCV005254032 RCV002243591 RCV005254046 RCV000210876 RCV005254112 RCV005254137 RCV005254645 RCV005254660 RCV005254667 RCV005254678 RCV005869985 RCV000210864 RCV000210872 RCV000210868 RCV000210871 RCV000210878 RCV000210867 RCV003226079 RCV003326682 RCV003319599 RCV005414297 RCV000760981 RCV005252929 RCV001782988 RCV000708587 RCV000714764 RCV003985427 RCV000787949 RCV000791282 RCV000991424 RCV001199280 RCV001251176 RCV001253781 RCV001255209 RCV001255613 RCV001264817 RCV005253779 RCV005253778 RCV002471074	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Pathogenic	rs577030895	RCV001260819	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs1579395680	RCV000787364	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs62321379	RCV005893881	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndromic Infantile Encephalopathy	Pathogenic	rs575822089, rs376699648	RCV000755061 RCV000755062	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TBCK-related disorder	Likely pathogenic; Pathogenic	rs2150053706, rs775034792, rs376699648, rs2467608578	RCV004741031 RCV004741065 RCV003335232 RCV004554122	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRAL SEPTAL DEFECT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Angiofibroma	Angiofibroma	BEFREE	27633981		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	27040692, 29283439, 33001864	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	32363625	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of uvula	Absent uvula	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30591081, 32363625	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	30591081	Inhibit	★☆☆☆☆ Found in Text Mining only
Dysgenesis of corpus callosum	Dysplastic corpus callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	29283439	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	29283439		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29283439		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	29283439, 30591081	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	27040691	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30591081		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3	Hypotonia, With Psychomotor Retardation And Characteristic Facies	ORPHANET_DG	18541960, 27040691, 27040692, 27275012, 27748029		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3	Hypotonia, With Psychomotor Retardation And Characteristic Facies	CLINVAR_DG	23977024, 27040691, 27040692		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3	Hypotonia, With Psychomotor Retardation And Characteristic Facies	GENOMICS_ENGLAND_DG	25529582, 27040692		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3	Hypotonia, With Psychomotor Retardation And Characteristic Facies	UNIPROT_DG	25558065, 27040691, 27040692		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3	Hypotonia, With Psychomotor Retardation And Characteristic Facies	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	BEFREE	27040691, 27748029, 29283439		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	27040691, 29283439, 30591081, 37876076	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney Neoplasms	Kidney neoplasm	Pubtator	31331056	Associate	★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Leukomalacia, Periventricular	Periventricular Leukomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	31331056		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	29283439	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	29283439	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30103036		★☆☆☆☆ Found in Text Mining only
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	BEFREE	30591081		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
obsolete Rod-cone dystrophy	Rod-cone dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	29283439	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	29283439	Associate	★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	32363625, 36317458	Associate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	31331056		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	32363625	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
TBCK-related intellectual disability syndrome	Mental retardation	Orphanet			★☆☆☆☆ Found in Text Mining only