FAM149B1 (family with sequence similarity 149 member B1)

Gene

• Entrez ID: 317662
• Gene name: Family with sequence similarity 149 member B1
• Gene symbol: FAM149B1
• Synonyms (NCBI Gene): JBTS36, KIAA0974
• Chromosome: 10
• Chromosome location: 10q22.2

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1259897171	C>T	Pathogenic	Non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1589150410	AG>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT980831	hsa-miR-1305	CLIP-seq
MIRT980832	hsa-miR-2053	CLIP-seq
MIRT980833	hsa-miR-3120-3p	CLIP-seq
MIRT980834	hsa-miR-421	CLIP-seq
MIRT980835	hsa-miR-4289	CLIP-seq
MIRT980836	hsa-miR-4468	CLIP-seq
MIRT980837	hsa-miR-4709-5p	CLIP-seq
MIRT980838	hsa-miR-545	CLIP-seq
MIRT980839	hsa-miR-548p	CLIP-seq
MIRT1920412	hsa-miR-300	CLIP-seq
MIRT1920413	hsa-miR-3194-3p	CLIP-seq
MIRT1920414	hsa-miR-3614-5p	CLIP-seq
MIRT1920415	hsa-miR-381	CLIP-seq
MIRT1920416	hsa-miR-4711-5p	CLIP-seq
MIRT1920412	hsa-miR-300	CLIP-seq
MIRT1920413	hsa-miR-3194-3p	CLIP-seq
MIRT1920414	hsa-miR-3614-5p	CLIP-seq
MIRT1920415	hsa-miR-381	CLIP-seq
MIRT1920416	hsa-miR-4711-5p	CLIP-seq
MIRT1990538	hsa-miR-1270	CLIP-seq
MIRT1990539	hsa-miR-4645-3p	CLIP-seq
MIRT1990540	hsa-miR-4683	CLIP-seq
MIRT1990541	hsa-miR-582-3p	CLIP-seq
MIRT1990542	hsa-miR-620	CLIP-seq
MIRT2224777	hsa-miR-2052	CLIP-seq
MIRT2224778	hsa-miR-2116	CLIP-seq
MIRT1920414	hsa-miR-3614-5p	CLIP-seq
MIRT2224779	hsa-miR-375	CLIP-seq
MIRT2224780	hsa-miR-4273	CLIP-seq
MIRT2224781	hsa-miR-4677-5p	CLIP-seq
MIRT2224782	hsa-miR-4694-5p	CLIP-seq
MIRT2449144	hsa-miR-3646	CLIP-seq
MIRT2449145	hsa-miR-3925-3p	CLIP-seq
MIRT2449146	hsa-miR-3929	CLIP-seq
MIRT2449147	hsa-miR-4419b	CLIP-seq
MIRT2449148	hsa-miR-4438	CLIP-seq
MIRT2449149	hsa-miR-4476	CLIP-seq
MIRT2449150	hsa-miR-4478	CLIP-seq
MIRT2449151	hsa-miR-651	CLIP-seq
MIRT2449152	hsa-miR-766	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	30905400
GO:0005929	Component	Cilium	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IMP	30905400
GO:0061512	Process	Protein localization to cilium	IBA
GO:0061512	Process	Protein localization to cilium	IMP	30905400

Other IDs

• MIM: 618413
• HGNC: 29162
• e!Ensembl: ENSG00000138286

Protein

• UniProt ID: Q96BN6
• Protein name: Primary cilium assembly protein FAM149B1
• Protein function: Involved in the localization of proteins to the cilium and cilium assembly. Indirectly regulates the signaling functions of the cilium, being required for normal SHH/smoothened signaling and proper development.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12516	DUF3719	114 → 179	Protein of unknown function (DUF3719)	Family

• Sequence:

  MISRYTRKAVPQSLELKGITKHALNHHPPPEKLEEISPTSDSHEKDTSSQSKSDITRESS
  FTSADTGNSLSAFPSYTGAGISTEGSSDFSWGYGELDQNATEKVQTMFTAIDELLYEQKL
  SVHTKSLQEECQQWTASFPHLRILGRQIITPSEGYRLYPRSPSAVSASYETTLSQERDST
  IFGIRGKKLHFSSSYAHKASSIAKSSSFCSMERDEEDSIIVSEGIIEEYLAFDHIDIEEG
  FHGKKSEAATEKQKLGYPPIAPFYCMKEDVLAYVFDSVWCKVVSCMEQLTRSHWEGFASD
  DESNVAVTRPDSESSCVLSELHPLVLPRVPQSKVLYITSNPMSLCQASRHQPNVNDLLVH
  GMPLQPRNLSLMDKLLDLDDKLLMRPGSSTILSTRNWPNRAVEFSTSSLSYTVQSTRRRN
  PPPRTLHPISTSHSCAETPRSVEEILRGARVPVAPDSLSSPSPTPLSRNNLLPPIGTAEV
  EHVSTVGPQRQMKPHGDSSRAQSAVVDEPNYQQPQERLLLPDFFPRPNTTQSFLLDTQYR
  RSCAVEYPHQARPGRGSAGPQLHGSTKSQSGGRPVSRTRQGP

• Sequence length: 582

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
Clear cell carcinoma of kidney	Pathogenic	rs750681131	RCV005939474	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome	Likely pathogenic	rs1589150410	RCV001175205	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 36	Likely pathogenic; Pathogenic	rs144804269, rs941024653, rs1233151424, rs750681131, rs1589150410, rs1259897171	RCV003233410 RCV003990217 RCV004560473 RCV004560508 RCV000999699 RCV000999700	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CONGENITAL ABSENCE OF PART OF BRAIN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOPLASIA OF PART OF BRAIN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAM149B1-related disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDRANENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACROGYRIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROGYRIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME TYPE 6	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME VI	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ataxia	Ataxia	Pubtator	34828254	Associate	★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	30905400		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	30905400, 34828254	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane retraction syndrome	Pubtator	34828254	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	30905400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	GENOMICS_ENGLAND_DG	30905400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothalamic hamartomas	Hypothalamic Hamartomas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	34828254	Associate	★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia Chronic Progressive External	Progressive external ophthalmoplegia	Pubtator	34828254	Associate	★☆☆☆☆ Found in Text Mining only
Orofaciodigital syndrome 6	Orofaciodigital syndrome	Pubtator	34828254	Associate	★☆☆☆☆ Found in Text Mining only
Orofaciodigital Syndrome I	Orofaciodigital Syndrome	BEFREE	30905400		★☆☆☆☆ Found in Text Mining only
Orofaciodigital syndrome type 6	Orofaciodigital Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME VI	Orofaciodigital syndrome	ORPHANET_DG	30905400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofaciodigital Syndromes	Orofaciodigital syndrome	BEFREE	30905400		★☆☆☆☆ Found in Text Mining only
Orofaciodigital Syndromes	Orofaciodigital syndrome	GENOMICS_ENGLAND_DG	30905400		★☆☆☆☆ Found in Text Mining only
Orofaciodigital Syndromes	Orofaciodigital syndrome	Pubtator	30905400	Associate	★☆☆☆☆ Found in Text Mining only
Osteofibrous Dysplasia	Osteofibrous dysplasia	Pubtator	30905400	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	30905400	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	34828254	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs inversus	Pubtator	34828254	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only