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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	317662
Gene name Gene Name - the full gene name approved by the HGNC.	Family with sequence similarity 149 member B1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FAM149B1
Synonyms (NCBI Gene) Gene synonyms aliases	JBTS36, KIAA0974
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q22.2

Show/Hide all(2)

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

Show/Hide all(40)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all(8)

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

MIM	HGNC	e!Ensembl
618413	29162	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

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Joubert Syndrome	Joubert syndrome 36	rs1589150410, rs1259897171	N/A
Cerebellar vermis agenesis	familial aplasia of the vermis	rs1589150410	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Orofaciodigital Syndrome	orofaciodigital syndrome type 6	N/A	N/A	GenCC

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Agenesis of Cerebellar Vermis	Associate	30905400, 34828254
Allanson Pantzar McLeod syndrome	Associate	34828254
Ataxia	Associate	34828254
Ciliopathies	Associate	30905400, 34828254
COVID 19	Associate	35657140
Duane Retraction Syndrome	Associate	34828254
Gait Disorders Neurologic	Associate	34828254
HEM dysplasia	Associate	34828254
Hereditary renal agenesis	Associate	34828254
Immotile cilia syndrome due to excessively long cilia	Associate	34828254
Infratentorial Neoplasms	Associate	30905400
Nystagmus Pathologic	Associate	34828254
Oculomotor Nerve Diseases	Associate	34828254
Ophthalmoplegia Chronic Progressive External	Associate	34828254
Orofaciodigital syndrome 6	Associate	34828254
Orofaciodigital Syndromes	Associate	30905400
Osteofibrous Dysplasia	Associate	30905400
Peritonitis	Associate	30905400
Polydactyly	Associate	34828254
Situs Inversus	Associate	34828254

FAM149B1 (family with sequence similarity 149 member B1)