TANC1 (tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1)

Gene

• Entrez ID: 85461
• Gene name: Tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1
• Gene symbol: TANC1
• Synonyms (NCBI Gene): ROLSB, TANC
• Chromosome: 2
• Chromosome location: 2q24.2

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs264588	C>A,T	Drug-response	Intron variant, genic upstream transcript variant
rs264631	C>G	Drug-response	Intron variant, genic upstream transcript variant, genic downstream transcript variant
rs264651	A>G	Drug-response	Intron variant, genic upstream transcript variant
rs6432512	C>T	Drug-response	Genic upstream transcript variant, 5 prime UTR variant, intron variant
rs7582141	G>T	Drug-response	Genic upstream transcript variant, intron variant
rs10497203	A>C	Drug-response	Intron variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT085871	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT085867	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT085871	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT085866	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT085879	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT085868	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT085888	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT085867	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT1410252	hsa-miR-101	CLIP-seq
MIRT1410253	hsa-miR-106a	CLIP-seq
MIRT1410254	hsa-miR-106b	CLIP-seq
MIRT1410255	hsa-miR-1206	CLIP-seq
MIRT1410256	hsa-miR-1244	CLIP-seq
MIRT1410257	hsa-miR-1255a	CLIP-seq
MIRT1410258	hsa-miR-1255b	CLIP-seq
MIRT1410259	hsa-miR-127-5p	CLIP-seq
MIRT1410260	hsa-miR-1279	CLIP-seq
MIRT1410261	hsa-miR-129-5p	CLIP-seq
MIRT1410262	hsa-miR-130a	CLIP-seq
MIRT1410263	hsa-miR-130b	CLIP-seq
MIRT1410264	hsa-miR-134	CLIP-seq
MIRT1410265	hsa-miR-142-5p	CLIP-seq
MIRT1410266	hsa-miR-144	CLIP-seq
MIRT1410267	hsa-miR-148a	CLIP-seq
MIRT1410268	hsa-miR-148b	CLIP-seq
MIRT1410269	hsa-miR-152	CLIP-seq
MIRT1410270	hsa-miR-17	CLIP-seq
MIRT1410271	hsa-miR-199a-3p	CLIP-seq
MIRT1410272	hsa-miR-199b-3p	CLIP-seq
MIRT1410273	hsa-miR-20a	CLIP-seq
MIRT1410274	hsa-miR-20b	CLIP-seq
MIRT1410275	hsa-miR-298	CLIP-seq
MIRT1410276	hsa-miR-29a	CLIP-seq
MIRT1410277	hsa-miR-29b	CLIP-seq
MIRT1410278	hsa-miR-29c	CLIP-seq
MIRT1410279	hsa-miR-301a	CLIP-seq
MIRT1410280	hsa-miR-301b	CLIP-seq
MIRT1410281	hsa-miR-302a	CLIP-seq
MIRT1410282	hsa-miR-302b	CLIP-seq
MIRT1410283	hsa-miR-302c	CLIP-seq
MIRT1410284	hsa-miR-302d	CLIP-seq
MIRT1410285	hsa-miR-302e	CLIP-seq
MIRT1410286	hsa-miR-3074-3p	CLIP-seq
MIRT1410287	hsa-miR-3118	CLIP-seq
MIRT1410288	hsa-miR-3129-5p	CLIP-seq
MIRT1410289	hsa-miR-3143	CLIP-seq
MIRT1410290	hsa-miR-3148	CLIP-seq
MIRT1410291	hsa-miR-3157-3p	CLIP-seq
MIRT1410292	hsa-miR-3163	CLIP-seq
MIRT1410293	hsa-miR-3170	CLIP-seq
MIRT1410294	hsa-miR-323b-3p	CLIP-seq
MIRT1410295	hsa-miR-329	CLIP-seq
MIRT1410296	hsa-miR-338-3p	CLIP-seq
MIRT1410297	hsa-miR-3609	CLIP-seq
MIRT1410298	hsa-miR-362-3p	CLIP-seq
MIRT1410299	hsa-miR-3646	CLIP-seq
MIRT1410300	hsa-miR-3666	CLIP-seq
MIRT1410301	hsa-miR-3688-3p	CLIP-seq
MIRT1410302	hsa-miR-372	CLIP-seq
MIRT1410303	hsa-miR-373	CLIP-seq
MIRT1410304	hsa-miR-3919	CLIP-seq
MIRT1410305	hsa-miR-3925-5p	CLIP-seq
MIRT1410306	hsa-miR-3944-5p	CLIP-seq
MIRT1410307	hsa-miR-4276	CLIP-seq
MIRT1410308	hsa-miR-4295	CLIP-seq
MIRT1410309	hsa-miR-4432	CLIP-seq
MIRT1410310	hsa-miR-452	CLIP-seq
MIRT1410311	hsa-miR-454	CLIP-seq
MIRT1410312	hsa-miR-4676-3p	CLIP-seq
MIRT1410313	hsa-miR-4703-3p	CLIP-seq
MIRT1410314	hsa-miR-4719	CLIP-seq
MIRT1410315	hsa-miR-4720-3p	CLIP-seq
MIRT1410316	hsa-miR-4760-5p	CLIP-seq
MIRT1410317	hsa-miR-4774-5p	CLIP-seq
MIRT1410318	hsa-miR-4778-5p	CLIP-seq
MIRT1410319	hsa-miR-4796-3p	CLIP-seq
MIRT1410320	hsa-miR-4797-5p	CLIP-seq
MIRT1410321	hsa-miR-4804-3p	CLIP-seq
MIRT1410322	hsa-miR-490-5p	CLIP-seq
MIRT1410323	hsa-miR-499-5p	CLIP-seq
MIRT1410324	hsa-miR-512-3p	CLIP-seq
MIRT1410325	hsa-miR-513b	CLIP-seq
MIRT1410326	hsa-miR-519d	CLIP-seq
MIRT1410327	hsa-miR-520a-3p	CLIP-seq
MIRT1410328	hsa-miR-520b	CLIP-seq
MIRT1410329	hsa-miR-520c-3p	CLIP-seq
MIRT1410330	hsa-miR-520d-3p	CLIP-seq
MIRT1410331	hsa-miR-520e	CLIP-seq
MIRT1410332	hsa-miR-548ah	CLIP-seq
MIRT1410333	hsa-miR-548k	CLIP-seq
MIRT1410334	hsa-miR-548n	CLIP-seq
MIRT1410335	hsa-miR-562	CLIP-seq
MIRT1410336	hsa-miR-577	CLIP-seq
MIRT1410337	hsa-miR-587	CLIP-seq
MIRT1410338	hsa-miR-600	CLIP-seq
MIRT1410339	hsa-miR-634	CLIP-seq
MIRT1410340	hsa-miR-93	CLIP-seq
MIRT1410252	hsa-miR-101	CLIP-seq
MIRT1410256	hsa-miR-1244	CLIP-seq
MIRT1410257	hsa-miR-1255a	CLIP-seq
MIRT1410258	hsa-miR-1255b	CLIP-seq
MIRT1410259	hsa-miR-127-5p	CLIP-seq
MIRT1410262	hsa-miR-130a	CLIP-seq
MIRT1410263	hsa-miR-130b	CLIP-seq
MIRT1410264	hsa-miR-134	CLIP-seq
MIRT1410266	hsa-miR-144	CLIP-seq
MIRT1410267	hsa-miR-148a	CLIP-seq
MIRT1410268	hsa-miR-148b	CLIP-seq
MIRT1410269	hsa-miR-152	CLIP-seq
MIRT1410271	hsa-miR-199a-3p	CLIP-seq
MIRT1410272	hsa-miR-199b-3p	CLIP-seq
MIRT1410275	hsa-miR-298	CLIP-seq
MIRT1410279	hsa-miR-301a	CLIP-seq
MIRT1410280	hsa-miR-301b	CLIP-seq
MIRT1410287	hsa-miR-3118	CLIP-seq
MIRT1410288	hsa-miR-3129-5p	CLIP-seq
MIRT1410290	hsa-miR-3148	CLIP-seq
MIRT1410293	hsa-miR-3170	CLIP-seq
MIRT2122957	hsa-miR-3202	CLIP-seq
MIRT1410296	hsa-miR-338-3p	CLIP-seq
MIRT2122958	hsa-miR-3614-5p	CLIP-seq
MIRT1410300	hsa-miR-3666	CLIP-seq
MIRT1410301	hsa-miR-3688-3p	CLIP-seq
MIRT1410304	hsa-miR-3919	CLIP-seq
MIRT1410305	hsa-miR-3925-5p	CLIP-seq
MIRT1410307	hsa-miR-4276	CLIP-seq
MIRT1410308	hsa-miR-4295	CLIP-seq
MIRT2122959	hsa-miR-4445	CLIP-seq
MIRT2122960	hsa-miR-4453	CLIP-seq
MIRT2122961	hsa-miR-4533	CLIP-seq
MIRT2122962	hsa-miR-4538	CLIP-seq
MIRT1410311	hsa-miR-454	CLIP-seq
MIRT2122963	hsa-miR-4680-3p	CLIP-seq
MIRT1410313	hsa-miR-4703-3p	CLIP-seq
MIRT2122964	hsa-miR-4764-5p	CLIP-seq
MIRT1410320	hsa-miR-4797-5p	CLIP-seq
MIRT1410322	hsa-miR-490-5p	CLIP-seq
MIRT2122965	hsa-miR-499-3p	CLIP-seq
MIRT2122966	hsa-miR-499a-3p	CLIP-seq
MIRT1410333	hsa-miR-548k	CLIP-seq
MIRT1410334	hsa-miR-548n	CLIP-seq
MIRT1410337	hsa-miR-587	CLIP-seq
MIRT1410338	hsa-miR-600	CLIP-seq
MIRT1410339	hsa-miR-634	CLIP-seq
MIRT2122967	hsa-miR-665	CLIP-seq
MIRT2122968	hsa-miR-890	CLIP-seq
MIRT1410253	hsa-miR-106a	CLIP-seq
MIRT1410254	hsa-miR-106b	CLIP-seq
MIRT1410255	hsa-miR-1206	CLIP-seq
MIRT1410256	hsa-miR-1244	CLIP-seq
MIRT1410257	hsa-miR-1255a	CLIP-seq
MIRT1410258	hsa-miR-1255b	CLIP-seq
MIRT1410259	hsa-miR-127-5p	CLIP-seq
MIRT1410262	hsa-miR-130a	CLIP-seq
MIRT1410263	hsa-miR-130b	CLIP-seq
MIRT2345275	hsa-miR-1323	CLIP-seq
MIRT1410264	hsa-miR-134	CLIP-seq
MIRT1410265	hsa-miR-142-5p	CLIP-seq
MIRT1410267	hsa-miR-148a	CLIP-seq
MIRT1410268	hsa-miR-148b	CLIP-seq
MIRT1410269	hsa-miR-152	CLIP-seq
MIRT1410270	hsa-miR-17	CLIP-seq
MIRT1410273	hsa-miR-20a	CLIP-seq
MIRT1410274	hsa-miR-20b	CLIP-seq
MIRT2345276	hsa-miR-23a	CLIP-seq
MIRT2345277	hsa-miR-23b	CLIP-seq
MIRT2345278	hsa-miR-23c	CLIP-seq
MIRT1410279	hsa-miR-301a	CLIP-seq
MIRT1410280	hsa-miR-301b	CLIP-seq
MIRT1410281	hsa-miR-302a	CLIP-seq
MIRT1410282	hsa-miR-302b	CLIP-seq
MIRT1410283	hsa-miR-302c	CLIP-seq
MIRT1410284	hsa-miR-302d	CLIP-seq
MIRT1410285	hsa-miR-302e	CLIP-seq
MIRT1410286	hsa-miR-3074-3p	CLIP-seq
MIRT1410287	hsa-miR-3118	CLIP-seq
MIRT1410289	hsa-miR-3143	CLIP-seq
MIRT1410292	hsa-miR-3163	CLIP-seq
MIRT1410293	hsa-miR-3170	CLIP-seq
MIRT1410294	hsa-miR-323b-3p	CLIP-seq
MIRT1410295	hsa-miR-329	CLIP-seq
MIRT1410296	hsa-miR-338-3p	CLIP-seq
MIRT1410298	hsa-miR-362-3p	CLIP-seq
MIRT1410300	hsa-miR-3666	CLIP-seq
MIRT1410301	hsa-miR-3688-3p	CLIP-seq
MIRT2345279	hsa-miR-3692	CLIP-seq
MIRT2345280	hsa-miR-369-3p	CLIP-seq
MIRT1410302	hsa-miR-372	CLIP-seq
MIRT1410303	hsa-miR-373	CLIP-seq
MIRT2345281	hsa-miR-378g	CLIP-seq
MIRT1410304	hsa-miR-3919	CLIP-seq
MIRT1410305	hsa-miR-3925-5p	CLIP-seq
MIRT2345282	hsa-miR-3978	CLIP-seq
MIRT1410307	hsa-miR-4276	CLIP-seq
MIRT1410308	hsa-miR-4295	CLIP-seq
MIRT2345283	hsa-miR-4427	CLIP-seq
MIRT1410310	hsa-miR-452	CLIP-seq
MIRT1410311	hsa-miR-454	CLIP-seq
MIRT1410312	hsa-miR-4676-3p	CLIP-seq
MIRT2122963	hsa-miR-4680-3p	CLIP-seq
MIRT1410314	hsa-miR-4719	CLIP-seq
MIRT2345284	hsa-miR-4733-5p	CLIP-seq
MIRT2345285	hsa-miR-4775	CLIP-seq
MIRT1410320	hsa-miR-4797-5p	CLIP-seq
MIRT1410322	hsa-miR-490-5p	CLIP-seq
MIRT1410326	hsa-miR-519d	CLIP-seq
MIRT1410327	hsa-miR-520a-3p	CLIP-seq
MIRT1410328	hsa-miR-520b	CLIP-seq
MIRT1410329	hsa-miR-520c-3p	CLIP-seq
MIRT1410330	hsa-miR-520d-3p	CLIP-seq
MIRT2345286	hsa-miR-520d-5p	CLIP-seq
MIRT1410331	hsa-miR-520e	CLIP-seq
MIRT2345287	hsa-miR-524-5p	CLIP-seq
MIRT2345288	hsa-miR-548a-3p	CLIP-seq
MIRT2345289	hsa-miR-548e	CLIP-seq
MIRT2345290	hsa-miR-548f	CLIP-seq
MIRT1410333	hsa-miR-548k	CLIP-seq
MIRT2345291	hsa-miR-548o	CLIP-seq
MIRT1410337	hsa-miR-587	CLIP-seq
MIRT2345292	hsa-miR-590-3p	CLIP-seq
MIRT1410338	hsa-miR-600	CLIP-seq
MIRT1410339	hsa-miR-634	CLIP-seq
MIRT1410340	hsa-miR-93	CLIP-seq
MIRT1410257	hsa-miR-1255a	CLIP-seq
MIRT1410258	hsa-miR-1255b	CLIP-seq
MIRT1410259	hsa-miR-127-5p	CLIP-seq
MIRT1410304	hsa-miR-3919	CLIP-seq
MIRT1410305	hsa-miR-3925-5p	CLIP-seq
MIRT1410320	hsa-miR-4797-5p	CLIP-seq
MIRT1410322	hsa-miR-490-5p	CLIP-seq
MIRT2345292	hsa-miR-590-3p	CLIP-seq
MIRT1410338	hsa-miR-600	CLIP-seq
MIRT1410256	hsa-miR-1244	CLIP-seq
MIRT2345275	hsa-miR-1323	CLIP-seq
MIRT2433776	hsa-miR-3120-3p	CLIP-seq
MIRT2433777	hsa-miR-545	CLIP-seq
MIRT2345291	hsa-miR-548o	CLIP-seq
MIRT2433778	hsa-miR-548p	CLIP-seq
MIRT2440891	hsa-miR-3182	CLIP-seq
MIRT2440892	hsa-miR-4693-3p	CLIP-seq
MIRT2461121	hsa-miR-2355-3p	CLIP-seq
MIRT2461122	hsa-miR-28-5p	CLIP-seq
MIRT2461123	hsa-miR-3125	CLIP-seq
MIRT2461124	hsa-miR-3139	CLIP-seq
MIRT2461125	hsa-miR-3916	CLIP-seq
MIRT2122960	hsa-miR-4453	CLIP-seq
MIRT2122962	hsa-miR-4538	CLIP-seq
MIRT2461126	hsa-miR-676	CLIP-seq
MIRT2461127	hsa-miR-708	CLIP-seq
MIRT2461128	hsa-miR-877	CLIP-seq
MIRT2638349	hsa-miR-1237	CLIP-seq
MIRT2638350	hsa-miR-1248	CLIP-seq
MIRT2638351	hsa-miR-186	CLIP-seq
MIRT2638352	hsa-miR-2276	CLIP-seq
MIRT2638353	hsa-miR-27a	CLIP-seq
MIRT2638354	hsa-miR-27b	CLIP-seq
MIRT2638355	hsa-miR-3133	CLIP-seq
MIRT2440891	hsa-miR-3182	CLIP-seq
MIRT2638356	hsa-miR-337-3p	CLIP-seq
MIRT2638357	hsa-miR-3913-3p	CLIP-seq
MIRT2638358	hsa-miR-410	CLIP-seq
MIRT2638359	hsa-miR-4257	CLIP-seq
MIRT2638360	hsa-miR-4279	CLIP-seq
MIRT2440892	hsa-miR-4693-3p	CLIP-seq
MIRT1410314	hsa-miR-4719	CLIP-seq
MIRT2638361	hsa-miR-4772-3p	CLIP-seq
MIRT2638362	hsa-miR-489	CLIP-seq
MIRT2638363	hsa-miR-513a-5p	CLIP-seq
MIRT1410325	hsa-miR-513b	CLIP-seq
MIRT2638364	hsa-miR-543	CLIP-seq
MIRT2638365	hsa-miR-544	CLIP-seq
MIRT2638366	hsa-miR-548aa	CLIP-seq
MIRT2345292	hsa-miR-590-3p	CLIP-seq
MIRT2638367	hsa-miR-873	CLIP-seq
MIRT1410253	hsa-miR-106a	CLIP-seq
MIRT1410254	hsa-miR-106b	CLIP-seq
MIRT1410255	hsa-miR-1206	CLIP-seq
MIRT2692623	hsa-miR-1269	CLIP-seq
MIRT2692624	hsa-miR-1269b	CLIP-seq
MIRT1410265	hsa-miR-142-5p	CLIP-seq
MIRT1410270	hsa-miR-17	CLIP-seq
MIRT1410273	hsa-miR-20a	CLIP-seq
MIRT1410274	hsa-miR-20b	CLIP-seq
MIRT1410276	hsa-miR-29a	CLIP-seq
MIRT1410277	hsa-miR-29b	CLIP-seq
MIRT1410278	hsa-miR-29c	CLIP-seq
MIRT1410281	hsa-miR-302a	CLIP-seq
MIRT1410282	hsa-miR-302b	CLIP-seq
MIRT1410283	hsa-miR-302c	CLIP-seq
MIRT1410284	hsa-miR-302d	CLIP-seq
MIRT1410285	hsa-miR-302e	CLIP-seq
MIRT1410289	hsa-miR-3143	CLIP-seq
MIRT1410297	hsa-miR-3609	CLIP-seq
MIRT1410299	hsa-miR-3646	CLIP-seq
MIRT2345280	hsa-miR-369-3p	CLIP-seq
MIRT1410302	hsa-miR-372	CLIP-seq
MIRT1410303	hsa-miR-373	CLIP-seq
MIRT2692625	hsa-miR-374c	CLIP-seq
MIRT2122960	hsa-miR-4453	CLIP-seq
MIRT1410310	hsa-miR-452	CLIP-seq
MIRT2692626	hsa-miR-4529-3p	CLIP-seq
MIRT2122962	hsa-miR-4538	CLIP-seq
MIRT1410312	hsa-miR-4676-3p	CLIP-seq
MIRT1410317	hsa-miR-4774-5p	CLIP-seq
MIRT1410319	hsa-miR-4796-3p	CLIP-seq
MIRT2122965	hsa-miR-499-3p	CLIP-seq
MIRT2122966	hsa-miR-499a-3p	CLIP-seq
MIRT1410324	hsa-miR-512-3p	CLIP-seq
MIRT1410326	hsa-miR-519d	CLIP-seq
MIRT1410327	hsa-miR-520a-3p	CLIP-seq
MIRT1410328	hsa-miR-520b	CLIP-seq
MIRT1410329	hsa-miR-520c-3p	CLIP-seq
MIRT1410330	hsa-miR-520d-3p	CLIP-seq
MIRT1410331	hsa-miR-520e	CLIP-seq
MIRT1410332	hsa-miR-548ah	CLIP-seq
MIRT1410335	hsa-miR-562	CLIP-seq
MIRT1410336	hsa-miR-577	CLIP-seq
MIRT2692627	hsa-miR-655	CLIP-seq
MIRT1410340	hsa-miR-93	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	30126976
GO:0007520	Process	Myoblast fusion	IEA
GO:0008542	Process	Visual learning	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0030425	Component	Dendrite	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043679	Component	Axon terminus	IEA
GO:0045202	Component	Synapse	IEA
GO:0097062	Process	Dendritic spine maintenance	IEA
GO:0098978	Component	Glutamatergic synapse	IBA
GO:0099175	Process	Regulation of postsynapse organization	IBA

Other IDs

• MIM: 611397
• HGNC: 29364
• e!Ensembl: ENSG00000115183

Protein

• UniProt ID: Q9C0D5
• Protein name: Protein TANC1 (Tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 1)
• Protein function: May be a scaffold component in the postsynaptic density.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12796	Ank_2	938 → 1030	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	1044 → 1142	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	1170 → 1241	Ankyrin repeats (3 copies)	Repeat

• Sequence:

  MLKAVLKKSREGGKGGKKEAGSDFGPETSPVLHLDHSADSPVSSLPTAEDTYRVSLAKGV
  SMSLPSSPLLPRQSHLVQSRVNKKSPGPVRKPKYVESPRVPGDAVIMPFREVAKPTEPDE
  HEAKADNEPSCSPAAQELLTRLGFLLGEGIPSATHITIEDKNETMCTALSQGISPCSTLT
  SSTASPSTDSPCSTLNSCVSKTAANKSPCETISSPSSTLESKDSGIIATITSSSENDDRS
  GSSLEWNKDGNLRLGVQKGVLHDRRADNCSPVAEEETTGSAESTLPKAESSAGDGPVPYS
  QGSSSLIMPRPNSVAATSSTKLEDLSYLDGQRNAPLRTSIRLPWHNTAGGRAQEVKARFA
  PYKPQDILLKPLLFEVPSITTDSVFVGRDWLFHQIEENLRNTELAENRGAVVVGNVGFGK
  TAIISKLVALSCHGSRMRQIASNSPGSSPKTSDPTQDLHFTPLLSPSSSTSASSTAKTPL
  GSISAENQRPREDAVKYLASKVVAYHYCQADNTYTCLVPEFVHSIAALLCRSHQLAAYRD
  LLIKEPQLQSMLSLRSCVQDPVAAFKRGVLEPLTNLRNEQKIPEEEYIILIDGLNEAEFH
  KPDYGDTLSSFITKIISKFPAWLKLIVTVRANFQEIISALPFVKLSLDDFPDNKDIHSDL
  HAYVQHRVHSSQDILSNISLNGKADATLIGKVSSHLVLRSLGSYLYLKLTLDLFQRGHLV
  IKSASYKVVPVSLSELYLLQCNMKFMTQSAFERALPILNVALASLHPMTDEQIFQAINAG
  HIQGEQGWEDFQQRMDALSCFLIKRRDKTRMFCHPSFREWLVWRADGENTAFLCEPRNGH
  ALLAFMFSRQEGKLNRQQTMELGHHILKAHIFKGLSKKTGISSSHLQALWIGYSTEGLSA
  ALASLRNLYTPNVKVSRLLILGGANVNYRTEVLNNAPILCVQSHLGHEEVVTLLLEFGAC
  LDGTSENGMTALCYAAAAGHMKLVCLLTKKGVRVDHLDKKGQCALVHSALRGHGDILQYL
  LTCEWSPGPPQPGTLRKSHALQQALTAAASMGHSSVVQCLLGMEKEHEVEVNGTDTLWGE
  TALTAAAGRGKLEVCELLLGHGAAVSRTNRRGVPPLFCAARQGHWQIVRLLLERGCDVNL
  SDKQGRTPLMVAACEGHLSTVEFLLSKGAALSSLDKEGLSALSWACLKGHRAVVQYLVEE
  GAAIDQTDKNGRTPLDLAAFYGDAETVLYLVEKGAVIEHVDHSGMRPLDRAIGCRNTSVV
  VALLRKGAKLGNAAWAMATSKPDILIILLQKLMEEGNVMYKKGKMKEAAQRYQYALRKFP
  REGFGEDMRPFNELRVSLYLNLSRCRRKTNDFGMAEEFASKALELKPKSYEAFYARARAK
  RNSRQFVAALADLQEAVKLCPTNQEVKRLLARVEEECKQLQRSQQQKQQGPLPAPLNDSE
  NEEDTPTPGLSDHFHSEETEEEETSPQEESVSPTPRSQPSSSVPSSYIRNLQEGLQSKGR
  PVSPQSRAGIGKSLREPVAQPGLLLQPSKQAQIVKTSQHLGSGQSAVRNGSMKVQISSQN
  PPPSPMPGRIAATPAGSRTQHLEGTGTFTTRAGCGHFGDRLGPSQNVRLQCGENGPAHPL
  PSKTKTTERLLSHSSVAVDAAPPNQGGLATCSDVRHPASLTSSGSSGSPSSSIKMSSSTS
  SLTSSSSFSDGFKVQGPDTRIKDKVVTHVQSGTAEHRPRNTPFMGIMDKTARFQQQSNPP
  SRSWHCPAPEGLLTNTSSAAGLQSANTEKPSLMQVGGYNNQAKTCSVSTLSASVHNGAQV
  KELEESKCQIPVHSQENRITKTVSHLYQESISKQQPHISNEAHRSHLTAAKPKRSFIESN
  V

• Sequence length: 1861

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	GWASDB_DG	17632509		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	GWASDB_DG	17632509		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31040020		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31040020		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	24974847		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	22182840		★☆☆☆☆ Found in Text Mining only