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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	158326
Gene name	FRAS1 related extracellular matrix 1
Gene symbol	FREM1
Synonyms (NCBI Gene)	BNARC9orf143C9orf145C9orf154MOTATILRRTRIGNO2
Chromosome	9
Chromosome location	9p22.3
Summary	This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61745612	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs121912609	G>A	Pathogenic, not-provided	Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121912610	C>T	Pathogenic, not-provided	Genic downstream transcript variant, non coding transcript variant, downstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs184394424	C>G,T	Benign, uncertain-significance, likely-benign, pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, genic downstream transcript variant, missense variant
rs281875280	T>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant, genic downstream transcript variant, intron variant, downstream transcript variant, non coding transcript variant
rs370556388	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant
rs373880888	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant, intron variant, genic downstream transcript variant, non coding transcript variant
rs769407804	AATT>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, genic upstream transcript variant, frameshift variant
rs774044026	G>A	Likely-pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs1064797351	C>A,G,T	Likely-pathogenic	Genic downstream transcript variant, intron variant, splice acceptor variant
rs1588131370	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant

Show/Hide all (87)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017119	hsa-miR-335-5p	Microarray	18185580
MIRT644905	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT644904	hsa-miR-138-1-3p	HITS-CLIP	23824327
MIRT644903	hsa-miR-5571-3p	HITS-CLIP	23824327
MIRT644902	hsa-miR-7975	HITS-CLIP	23824327
MIRT644901	hsa-miR-384	HITS-CLIP	23824327
MIRT644905	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT644904	hsa-miR-138-1-3p	HITS-CLIP	23824327
MIRT644903	hsa-miR-5571-3p	HITS-CLIP	23824327
MIRT644902	hsa-miR-7975	HITS-CLIP	23824327
MIRT644901	hsa-miR-384	HITS-CLIP	23824327
MIRT1004153	hsa-miR-4490	CLIP-seq
MIRT1004154	hsa-miR-4772-3p	CLIP-seq
MIRT1004155	hsa-miR-4774-5p	CLIP-seq
MIRT1004156	hsa-miR-1179	CLIP-seq
MIRT1004157	hsa-miR-1257	CLIP-seq
MIRT1004158	hsa-miR-1914	CLIP-seq
MIRT1004159	hsa-miR-3121-3p	CLIP-seq
MIRT1004160	hsa-miR-3125	CLIP-seq
MIRT1004161	hsa-miR-338-5p	CLIP-seq
MIRT1004162	hsa-miR-3657	CLIP-seq
MIRT1004163	hsa-miR-3916	CLIP-seq
MIRT1004164	hsa-miR-3928	CLIP-seq
MIRT1004165	hsa-miR-4263	CLIP-seq
MIRT1004166	hsa-miR-4264	CLIP-seq
MIRT1004167	hsa-miR-4276	CLIP-seq
MIRT1004168	hsa-miR-4504	CLIP-seq
MIRT1004169	hsa-miR-4670-3p	CLIP-seq
MIRT1004170	hsa-miR-4720-3p	CLIP-seq
MIRT1004171	hsa-miR-4733-5p	CLIP-seq
MIRT1004172	hsa-miR-4735-5p	CLIP-seq
MIRT1004173	hsa-miR-4781-3p	CLIP-seq
MIRT1004174	hsa-miR-4797-3p	CLIP-seq
MIRT1004175	hsa-miR-4804-3p	CLIP-seq
MIRT1004176	hsa-miR-487a	CLIP-seq
MIRT1004177	hsa-miR-576-5p	CLIP-seq
MIRT1004178	hsa-miR-578	CLIP-seq
MIRT1004179	hsa-miR-643	CLIP-seq
MIRT1997638	hsa-miR-1200	CLIP-seq
MIRT1997639	hsa-miR-216a	CLIP-seq
MIRT1997640	hsa-miR-216b	CLIP-seq
MIRT1997641	hsa-miR-2861	CLIP-seq
MIRT1997642	hsa-miR-3074-5p	CLIP-seq
MIRT1997643	hsa-miR-4324	CLIP-seq
MIRT1997644	hsa-miR-4436a	CLIP-seq
MIRT1997645	hsa-miR-544b	CLIP-seq
MIRT2231322	hsa-miR-1256	CLIP-seq
MIRT1997639	hsa-miR-216a	CLIP-seq
MIRT1997640	hsa-miR-216b	CLIP-seq
MIRT2231323	hsa-miR-217	CLIP-seq
MIRT2231324	hsa-miR-2276	CLIP-seq
MIRT2231325	hsa-miR-23a	CLIP-seq
MIRT2231326	hsa-miR-23b	CLIP-seq
MIRT2231327	hsa-miR-23c	CLIP-seq
MIRT2231328	hsa-miR-3065-3p	CLIP-seq
MIRT2231329	hsa-miR-4283	CLIP-seq
MIRT2231330	hsa-miR-4418	CLIP-seq
MIRT2231331	hsa-miR-4696	CLIP-seq
MIRT1004154	hsa-miR-4772-3p	CLIP-seq
MIRT2231332	hsa-miR-4795-3p	CLIP-seq
MIRT2231333	hsa-miR-4798-5p	CLIP-seq
MIRT2231334	hsa-miR-509-3-5p	CLIP-seq
MIRT2231335	hsa-miR-509-5p	CLIP-seq
MIRT2231336	hsa-miR-587	CLIP-seq
MIRT2231337	hsa-miR-760	CLIP-seq
MIRT2449901	hsa-miR-298	CLIP-seq
MIRT2449902	hsa-miR-29a	CLIP-seq
MIRT2449903	hsa-miR-29b	CLIP-seq
MIRT2449904	hsa-miR-29c	CLIP-seq
MIRT2231328	hsa-miR-3065-3p	CLIP-seq
MIRT2449905	hsa-miR-3678-3p	CLIP-seq
MIRT2535280	hsa-miR-1260	CLIP-seq
MIRT2535281	hsa-miR-1260b	CLIP-seq
MIRT2535282	hsa-miR-188-3p	CLIP-seq
MIRT2535283	hsa-miR-3156-3p	CLIP-seq
MIRT2535284	hsa-miR-3667-3p	CLIP-seq
MIRT2535285	hsa-miR-4301	CLIP-seq
MIRT2535286	hsa-miR-4699-5p	CLIP-seq
MIRT2535287	hsa-miR-548u	CLIP-seq
MIRT2535280	hsa-miR-1260	CLIP-seq
MIRT2535281	hsa-miR-1260b	CLIP-seq
MIRT2535282	hsa-miR-188-3p	CLIP-seq
MIRT2535283	hsa-miR-3156-3p	CLIP-seq
MIRT2535284	hsa-miR-3667-3p	CLIP-seq
MIRT2535285	hsa-miR-4301	CLIP-seq
MIRT2535286	hsa-miR-4699-5p	CLIP-seq
MIRT2535287	hsa-miR-548u	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	29688405
GO:0005576	Component	Extracellular region	IEA
GO:0005604	Component	Basement membrane	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0016020	Component	Membrane	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0097094	Process	Craniofacial suture morphogenesis	IMP	21931569

MIM	HGNC	e!Ensembl
608944	23399	ENSG00000164946

Q5H8C1

Protein name

FRAS1-related extracellular matrix protein 1 (Protein QBRICK)

Protein function

Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16184	Cadherin_3	292 → 391		Domain
PF16184	Cadherin_3	396 → 502		Domain
PF16184	Cadherin_3	504 → 617		Domain
PF16184	Cadherin_3	623 → 756		Domain
PF16184	Cadherin_3	760 → 869		Domain
PF16184	Cadherin_3	871 → 984		Domain
PF16184	Cadherin_3	1009 → 1128		Domain
PF16184	Cadherin_3	1131 → 1256		Domain
PF16184	Cadherin_3	1258 → 1374		Domain
PF16184	Cadherin_3	1377 → 1487		Domain
PF16184	Cadherin_3	1489 → 1598		Domain
PF16184	Cadherin_3	1611 → 1726		Domain
PF03160	Calx-beta	1731 → 1830	Calx-beta domain	Domain
PF00059	Lectin_C	2071 → 2177	Lectin C-type domain	Domain

Sequence

MNSLSWGAANAVLLLLLLAWASPTFISINRGVRVMKGHSAFLSGDDLKFAIPKEKDACKV
EVVMNEPITQRVGKLTPQVFDCHFLPNEVKYVHNGCPILDEDTVKLRLYRFTERDTFIET
FILWVYLLEPDCNIIHMSNNVLEVPEFNGLSQAIDKNLLRFDYDRMASLECTVSLDTART
RLPAHGQMVLGEPRPEEPRGDQPHSFFPESQLRAKLKCPGGSCTPGLKKIGSLKVSCEEF
LLMGLRYQHLDPPSPNIDYISIQLDLTDTRSKIVYKSESAWLPVYIRAGIPNQIPKAAFM
AVFILEVDQFILTSLTTSVLDCEEDETPKPLLVFNITKAPLQGYVTHLLDHTRPISSFTW
KDLSDMQIAYQPPNSSHSERRHDEVELEVYDFFFERSAPMTVHISIRTADTNAPRVSWNT
GLSLLEGQSRAITWEQFQVVDNDDIGAVRLVTVGGLQHGWLTLRGGKGFLFTVADLQAGV
VRYHHDDSDSTKDFVVFRIFDGHHSIRHKFPINVLPKDDSPPFLITNVVIELEEGQTILI
QGSMLRASDVDASDDYIFFNITKPPQAGEIMKKPGPGLIGYPVHGFLQRDLFNGIIYYRH
FGGEIFEDSFQFVLWDSHEPPNLSVPQVATIHITPVDDQLPKEAPGVSRHLVVKETEVAY
ITKKQLHFIDSESYDRELVYTITTPPFFSFSHRHLDAGKLFMVDSIPKVVKNPTALELRS
FTQHAVNYMKVAYMPPMQDIGPHCRDVQFTFSVSNQHGGTLHGICFNITILPVDNQVPEA
FTNPLKVTEGGQSIISTEHILISDADTKLDNIDLSLRELPLHGRVELNGFPLNSGGTFSW
GDLHTLKVRYQHDGTEVLQDDLLLEVTDGTNSAEFVLHVEVFPVNDEPPVLKADLMPVMN
CSEGGEVVITSEYIFATDVDSDNLKLMFVIAREPQHGVVRRAGVTVDQFSQRDVISEAVT
YKHTGGEIGLMPCFDTITLVVSDGEAGPFVNGCCYNGPNPSVPLHASFPVYDLNITVYPV
DNQPPSIAIGPVFVVDEGCSTALTVNHLSATDPDTAADDLEFVLVSPPQFGYLENILPSV
GFEKSNIGISIDSFQWKDMNAFHINYVQSRHLRIEPTADQFTVYVTDGKHHSLEIPFSII
INPTNDEAPDFVVQNITVCEGQMKELDSSIISAVDLDIPQDALLFSITQKPRHGLLIDRG
FSKDFSENKQPANPHQKHAPVHSFSMELLKTGMRLTYMHDDSESLADDFTIQLSDGKHKI
LKTISVEVIPVNDEKPMLSKKAEIAMNMGETRIISSAILSAIDEDSPREKIYYVFERLPQ
NGQLQLKIGRDWVPLSPGMKCTQEEVDLNLLRYTHTGAMDSQNQDSFTFYLWDGNNRSPA
LDCQITIKDMEKGDIVILTKPLVVSKGDRGFLTTTTLLAVDGTDKPEELLYVITSPPRYG
QIEYVHYPGVPITNFSQMDVVGQTVCYVHKSKVTVSSDRFRFIISNGLRTEHGVFEITLE
TVDRALPVVTRNKGLRLAQGAVGLLSPDLLQLTDPDTPAENLTFLLVQLPQHGQLYLWGT
GLLQHNFTQQDVDSKNVAYRHSGGDSQTDCFTFMATDGTNQGFIVNGRVWEEPVLFTIQV
DQLDKTAPRITLLHSPSQVGLLKNGCYGIYITSRVLKASDPDTEDDQIIFKILQGPKHGH
LENTTTGEFIHEKFSQKDLNSKTILYIINPSLEVNSDTVEFQIMDPTGNSATPQILELKW
SHIEWSQTEYEVCENVGLLPLEIIRRGYSMDSAFVGIKVNQVSAAVGKDFTVIPSKLIQF
DPGMSTKMWNIAITYDGLEEDDEVFEVILNSPVNAVLGTKTKAAVKILDSKGGQCHPSYS
SNQSKHSTWEKGIWHLLPPGSSSSTTSGSFHLERRPLPSSMQLAVIRGDTLRGFDSTDLS
QRKLRTRGNGKTVRPSSVYRNGTDIIYNYHGIVSLKLEDDSFPTHKRKAKVSIISQPQKT
IKVAELPQADKVESTTDSHFPRQDQLPSFPKNCTLELKGLFHFEEGIQKLYQCNGIAWKA
WSPQTKDVEDKSCPAGWHQHSGYCHILITEQKGTWNAAAQACREQYLGNLVTVFSRQHMR
WLWDIGGRKSFWIGLNDQVHAGHWEWIGGEPVAFTNGRRGPSQRSKLGKSCVLVQRQGKW
QTKDCRRAKPHNYVCSRKL

Sequence length

2179

Interactions

View interactions

	KEGG
	ECM-receptor interaction

884

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
BNAR syndrome	Likely pathogenic; Pathogenic	rs990411562, rs1588131370, rs200778244, rs2538704291, rs1464587064, rs2539492420, rs1380643285, rs2537702433, rs769407804, rs1064797351	RCV001836680 RCV000002065 RCV005045326 RCV003389093 RCV003389094 RCV005863865 RCV005047795 RCV003983750 RCV002482903 RCV005044734
FREM1-related disorder	Likely pathogenic	rs2539492420	RCV003393201
Oculotrichoanal syndrome	Pathogenic; Likely pathogenic	rs1588131370, rs200778244, rs2539492420, rs1380643285, rs2537536904, rs769407804, rs281875281, rs1064797351, rs773469926, rs281875282	RCV004760316 RCV005045326 RCV005863865 RCV005047795 RCV004527545 RCV000023742 RCV000023743 RCV005044734 RCV005645113 RCV002291556
Trigonocephaly 2	Likely pathogenic; Pathogenic	rs200778244, rs1380643285, rs769407804, rs1064797351	RCV005045326 RCV005047795 RCV002482903 RCV005044734

Show/Hide Unknown Diseases (24)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign	rs41298151, rs75897613	RCV005893687 RCV005900531
Cervical cancer	Benign	rs61745880	RCV005900539
Cholangiocarcinoma	Benign	rs1353223	RCV005900546
Chronic kidney disease	Uncertain significance	rs201056172	RCV001171324
Clear cell carcinoma of kidney	Benign	rs75897613	RCV005900533
Colon adenocarcinoma	Benign	rs1353223	RCV005900542
Colorectal cancer	Benign	rs1353223, rs10961757	RCV005900543 RCV005900547
Congenital anomaly of kidney and urinary tract	Uncertain significance	rs201056172	RCV001328303
Congenital diaphragmatic hernia	Conflicting classifications of pathogenicity	rs41298151	RCV000203291
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity	rs41298151	RCV005893688
Gastric cancer	Benign; Conflicting classifications of pathogenicity	rs12235714, rs41298151	RCV005889776 RCV005893689
Hepatocellular carcinoma	Benign	rs10511596	RCV005921448
Irido-corneo-trabecular dysgenesis	Conflicting classifications of pathogenicity	rs184394424	RCV000207399
Lung cancer	Conflicting classifications of pathogenicity; Benign	rs41298151, rs75897613	RCV005893692 RCV005900536
Malignant lymphoma, large B-cell, diffuse	Benign	rs10511596	RCV005921449
Microcephaly	Uncertain significance	rs766584062	RCV001252712
Nonpapillary renal cell carcinoma	Likely benign; Benign	rs1249507655, rs779156069, rs75897613, rs61745880	RCV005921196 RCV005869913 RCV005900532 RCV005900538
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign	rs41298151, rs75897613	RCV005893690 RCV005900535
Rieger anomaly	Conflicting classifications of pathogenicity	rs184394424	RCV000207399
Sarcoma	Conflicting classifications of pathogenicity; Benign	rs145871721, rs75897613	RCV005925623 RCV005900534
Thymoma	Benign; Conflicting classifications of pathogenicity	rs61745880, rs1353223, rs200495440	RCV005900541 RCV005900545 RCV005908872
Thyroid cancer, nonmedullary, 1	Benign; Conflicting classifications of pathogenicity	rs12235714, rs41298151	RCV005889777 RCV005893691
Uterine carcinosarcoma	Benign	rs10511596, rs61745880, rs1353223, rs10961757	RCV005921450 RCV005900540 RCV005900544 RCV005900548
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign	rs41298151, rs75897613	RCV005893693 RCV005900537

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Bifid nose	Associate	38097983
Bifid Nose With Or Without Anorectal And Renal Anomalies	Associate	23401257
Breast Neoplasms	Inhibit	33058542
Breast Neoplasms	Associate	37178414
Cakut	Associate	29197384
Carcinoma Pancreatic Ductal	Associate	35149544
Cleft eyelid	Associate	23401257
Cryptophthalmos Unilateral or Bilateral Isolated	Associate	37353237
Epileptic Syndromes	Associate	35798703
Fibrosis	Associate	31678370
Fraser Syndrome	Associate	23401257, 29197384, 37353237
Glycosuria Renal	Associate	34338422
Gynatresia	Associate	23401257
Hernias Diaphragmatic Congenital	Associate	25736269
HIV Infections	Associate	22915813
Inflammation	Associate	36510129
Marles Greenberg Persaud syndrome	Associate	22690109
McKusick Kaufman syndrome	Associate	23401257
Neoplasms	Associate	24553122, 32311223
Orofacial Cleft 1	Associate	29855589
pediatric multisystem inflammatory disease COVID 19 related	Associate	36510129
Primary Myelofibrosis	Associate	31678370
Trichodental syndrome	Associate	23401257, 33478401, 37353237
Triple Negative Breast Neoplasms	Inhibit	33058542
Uterine Retroversion	Associate	23401257
Vaginitis	Associate	23401257

FREM1 (FRAS1 related extracellular matrix 1)