FAM149B1 (family with sequence similarity 149 member B1) - Rat Genome Database

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Gene: FAM149B1 (family with sequence similarity 149 member B1) Homo sapiens
Analyze
Symbol: FAM149B1
Name: family with sequence similarity 149 member B1
RGD ID: 1351219
HGNC Page HGNC:29162
Description: Involved in cilium assembly and protein localization to cilium. Predicted to be located in cilium. Implicated in Joubert syndrome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: family with sequence similarity 149, member B1; hypothetical protein LOC317662; JBTS36; KIAA0974; primary cilium assembly protein FAM149B1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: FAM149B1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381073,168,119 - 73,244,504 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1073,168,119 - 73,244,504 (+)EnsemblGRCh38hg38GRCh38
GRCh371074,927,877 - 75,004,262 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361074,597,883 - 74,674,446 (+)NCBINCBI36Build 36hg18NCBI36
Build 341074,604,454 - 74,674,268NCBI
Celera1068,213,504 - 68,287,562 (+)NCBICelera
Cytogenetic Map10q22.2NCBI
HuRef1068,921,813 - 68,995,799 (+)NCBIHuRef
CHM1_11075,209,625 - 75,283,656 (+)NCBICHM1_1
T2T-CHM13v2.01074,039,474 - 74,115,884 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cilium  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal heart morphology  (IAGP)
Abnormal oral frenulum morphology  (IAGP)
Abnormality of neuronal migration  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Apnea  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral cryptorchidism  (IAGP)
Biparietal narrowing  (IAGP)
Brachydactyly  (IAGP)
Broad nasal tip  (IAGP)
Central Y-shaped metacarpal  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cleft palate  (IAGP)
Conductive hearing impairment  (IAGP)
Epicanthus  (IAGP)
Episodic tachypnea  (IAGP)
Esotropia  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Finger clinodactyly  (IAGP)
Foot polydactyly  (IAGP)
Frontal bossing  (IAGP)
Gait disturbance  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hamartoma of tongue  (IAGP)
Hand polydactyly  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of olfactory tract  (IAGP)
Hypothalamic hamartoma  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Lobulated tongue  (IAGP)
Long face  (IAGP)
Macrocephaly  (IAGP)
Mesoaxial hand polydactyly  (IAGP)
Mesoaxial polydactyly  (IAGP)
Micrognathia  (IAGP)
Midline notch of upper alveolar ridge  (IAGP)
Molar tooth sign on MRI  (IAGP)
Nystagmus  (IAGP)
Open mouth  (IAGP)
Pectus carinatum  (IAGP)
Posteriorly rotated ears  (IAGP)
Preaxial polydactyly  (IAGP)
Prominent forehead  (IAGP)
Prominent nasal bridge  (IAGP)
Ptosis  (IAGP)
Renal agenesis  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short stature  (IAGP)
Strabismus  (IAGP)
Syndactyly  (IAGP)
Tongue nodules  (IAGP)
Tremor  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:8889548   PMID:10231032   PMID:14702039   PMID:21873635   PMID:26186194   PMID:28514442   PMID:30905400   PMID:31586073   PMID:33961781   PMID:34828254   PMID:35609210  


Genomics

Comparative Map Data
FAM149B1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381073,168,119 - 73,244,504 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1073,168,119 - 73,244,504 (+)EnsemblGRCh38hg38GRCh38
GRCh371074,927,877 - 75,004,262 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361074,597,883 - 74,674,446 (+)NCBINCBI36Build 36hg18NCBI36
Build 341074,604,454 - 74,674,268NCBI
Celera1068,213,504 - 68,287,562 (+)NCBICelera
Cytogenetic Map10q22.2NCBI
HuRef1068,921,813 - 68,995,799 (+)NCBIHuRef
CHM1_11075,209,625 - 75,283,656 (+)NCBICHM1_1
T2T-CHM13v2.01074,039,474 - 74,115,884 (+)NCBIT2T-CHM13v2.0
Fam149b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391420,398,221 - 20,433,559 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1420,398,230 - 20,433,559 (+)EnsemblGRCm39 Ensembl
GRCm381420,348,158 - 20,383,491 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1420,348,162 - 20,383,491 (+)EnsemblGRCm38mm10GRCm38
MGSCv371421,167,384 - 21,202,713 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361419,130,226 - 19,172,043 (+)NCBIMGSCv36mm8
Celera1416,728,980 - 16,764,293 (+)NCBICelera
Cytogenetic Map14A3NCBI
cM Map1411.52NCBI
Fam149b1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8153,978,377 - 4,016,323 (-)NCBIGRCr8
mRatBN7.2153,929,190 - 3,967,140 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl153,929,190 - 3,966,997 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx153,939,296 - 3,977,235 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0155,325,717 - 5,363,656 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0153,938,113 - 3,976,051 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0154,361,860 - 4,399,746 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl154,361,862 - 4,399,685 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0158,463,358 - 8,500,791 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4154,157,828 - 4,196,419 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1154,157,829 - 4,196,419 (-)NCBI
Celera15628,607 - 665,881 (+)NCBICelera
Cytogenetic Map15p16NCBI
Fam149b1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543718,491,975 - 18,537,626 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543718,492,459 - 18,537,629 (-)NCBIChiLan1.0ChiLan1.0
FAM149B1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2885,342,998 - 85,418,105 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11085,348,321 - 85,423,428 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01069,714,749 - 69,789,835 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11072,175,086 - 72,249,611 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1072,175,085 - 72,249,611 (+)Ensemblpanpan1.1panPan2
FAM149B1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1423,742,456 - 23,820,160 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl423,742,590 - 23,820,965 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha423,880,625 - 23,958,305 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0424,028,903 - 24,101,552 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl424,028,950 - 24,101,547 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1423,927,354 - 23,999,161 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0424,127,024 - 24,198,419 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0424,482,054 - 24,554,453 (+)NCBIUU_Cfam_GSD_1.0
Fam149b1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721357,302,430 - 57,353,461 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365215,795,821 - 5,846,195 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM149B1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1475,992,765 - 76,064,063 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11475,992,657 - 76,065,822 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21482,092,379 - 82,128,394 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FAM149B1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1958,029,800 - 58,108,668 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl958,030,946 - 58,109,365 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604818,615,732 - 18,694,728 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fam149b1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247546,861,636 - 6,911,340 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247546,861,455 - 6,912,991 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FAM149B1
65 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_173348.2(FAM149B1):c.1349G>A (p.Arg450Gln) single nucleotide variant not specified [RCV004205689] Chr10:73233160 [GRCh38]
Chr10:74992918 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 copy number loss See cases [RCV000052530] Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2		 pathogenic
GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1 copy number loss See cases [RCV000052531] Chr10:72720628..75612374 [GRCh38]
Chr10:74480386..77372132 [GRCh37]
Chr10:74150392..77042138 [NCBI36]
Chr10:10q22.1-22.2		 pathogenic
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 copy number loss See cases [RCV000052511] Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2		 pathogenic
NM_173348.2(FAM149B1):c.1551G>A (p.Arg517=) single nucleotide variant not provided [RCV002292775] Chr10:73235267 [GRCh38]
Chr10:74995025 [GRCh37]
Chr10:10q22.2		 likely benign
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2		 pathogenic
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3		 pathogenic
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 copy number loss See cases [RCV000136658] Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2		 pathogenic|likely benign
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
NM_173348.2(FAM149B1):c.518T>C (p.Leu173Ser) single nucleotide variant not specified [RCV004298686] Chr10:73193569 [GRCh38]
Chr10:74953327 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_173348.2(FAM149B1):c.178T>C (p.Ser60Pro) single nucleotide variant not specified [RCV004282299] Chr10:73177871 [GRCh38]
Chr10:74937629 [GRCh37]
Chr10:10q22.2		 likely benign
NM_173348.2(FAM149B1):c.1631C>T (p.Ala544Val) single nucleotide variant not specified [RCV004301508] Chr10:73239340 [GRCh38]
Chr10:74999098 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.439C>T (p.Gln147Ter) single nucleotide variant Joubert syndrome 36 [RCV000999700] Chr10:73193490 [GRCh38]
Chr10:74953248 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_173348.2(FAM149B1):c.356_357del (p.Lys119fs) deletion Familial aplasia of the vermis [RCV001175205]|Joubert syndrome 36 [RCV000999699] Chr10:73192629..73192630 [GRCh38]
Chr10:74952387..74952388 [GRCh37]
Chr10:10q22.2		 pathogenic|likely pathogenic
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) copy number loss not specified [RCV002052875] Chr10:68735254..78885714 [GRCh37]
Chr10:10q21.3-22.3		 pathogenic
GRCh37/hg19 10q22.1-22.2(chr10:74472028-75007588) copy number gain not specified [RCV002052877] Chr10:74472028..75007588 [GRCh37]
Chr10:10q22.1-22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1183C>T (p.Arg395Ter) single nucleotide variant Joubert syndrome 36 [RCV003233410] Chr10:73232994 [GRCh38]
Chr10:74992752 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_173348.2(FAM149B1):c.1023+35G>T single nucleotide variant not provided [RCV003233409] Chr10:73228219 [GRCh38]
Chr10:74987977 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1212T>G (p.Phe404Leu) single nucleotide variant not specified [RCV004136902] Chr10:73233023 [GRCh38]
Chr10:74992781 [GRCh37]
Chr10:10q22.2		 likely benign
NM_173348.2(FAM149B1):c.1255C>T (p.Arg419Cys) single nucleotide variant not specified [RCV004218283] Chr10:73233066 [GRCh38]
Chr10:74992824 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1618C>T (p.Arg540Cys) single nucleotide variant not specified [RCV004200413] Chr10:73239327 [GRCh38]
Chr10:74999085 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1345G>A (p.Ala449Thr) single nucleotide variant not specified [RCV004165410] Chr10:73233156 [GRCh38]
Chr10:74992914 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1589C>G (p.Thr530Ser) single nucleotide variant not specified [RCV004102947] Chr10:73235305 [GRCh38]
Chr10:74995063 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1345G>C (p.Ala449Pro) single nucleotide variant not specified [RCV004215163] Chr10:73233156 [GRCh38]
Chr10:74992914 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.55A>T (p.Ile19Leu) single nucleotide variant not specified [RCV004105984] Chr10:73174694 [GRCh38]
Chr10:74934452 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.931G>A (p.Asp311Asn) single nucleotide variant not specified [RCV004203609] Chr10:73228092 [GRCh38]
Chr10:74987850 [GRCh37]
Chr10:10q22.2		 likely benign
NM_015190.5(DNAJC9):c.692T>C (p.Met231Thr) single nucleotide variant not specified [RCV004201392] Chr10:73243491 [GRCh38]
Chr10:75003249 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.413T>G (p.Phe138Cys) single nucleotide variant not specified [RCV004133798] Chr10:73192686 [GRCh38]
Chr10:74952444 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1643C>T (p.Pro548Leu) single nucleotide variant not specified [RCV004187363] Chr10:73239352 [GRCh38]
Chr10:74999110 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.187T>G (p.Ser63Ala) single nucleotide variant FAM149B1-related disorder [RCV003396878]|not specified [RCV004230499] Chr10:73177880 [GRCh38]
Chr10:74937638 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1022C>T (p.Pro341Leu) single nucleotide variant not specified [RCV004210409] Chr10:73228183 [GRCh38]
Chr10:74987941 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1237G>A (p.Val413Met) single nucleotide variant not specified [RCV004212325] Chr10:73233048 [GRCh38]
Chr10:74992806 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1516G>A (p.Val506Met) single nucleotide variant not specified [RCV004205519] Chr10:73235232 [GRCh38]
Chr10:74994990 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1093C>G (p.Gln365Glu) single nucleotide variant not specified [RCV004166248] Chr10:73230491 [GRCh38]
Chr10:74990249 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_015190.5(DNAJC9):c.633A>C (p.Glu211Asp) single nucleotide variant not specified [RCV004100192] Chr10:73243873 [GRCh38]
Chr10:75003631 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.515C>A (p.Thr172Asn) single nucleotide variant not specified [RCV004163548] Chr10:73193566 [GRCh38]
Chr10:74953324 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1184G>A (p.Arg395Gln) single nucleotide variant not specified [RCV004274155] Chr10:73232995 [GRCh38]
Chr10:74992753 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1391C>A (p.Thr464Lys) single nucleotide variant not specified [RCV004250179] Chr10:73234855 [GRCh38]
Chr10:74994613 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.179C>G (p.Ser60Cys) single nucleotide variant not specified [RCV004257770] Chr10:73177872 [GRCh38]
Chr10:74937630 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1648C>A (p.Gln550Lys) single nucleotide variant not specified [RCV004276766] Chr10:73239357 [GRCh38]
Chr10:74999115 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
NM_173348.2(FAM149B1):c.1023G>C (p.Pro341=) single nucleotide variant not specified [RCV003324277] Chr10:73228184 [GRCh38]
Chr10:74987942 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
NM_173348.2(FAM149B1):c.173A>C (p.Glu58Ala) single nucleotide variant not specified [RCV004335061] Chr10:73177866 [GRCh38]
Chr10:74937624 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.515C>T (p.Thr172Ile) single nucleotide variant not specified [RCV004360379] Chr10:73193566 [GRCh38]
Chr10:74953324 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1485T>C (p.His495=) single nucleotide variant not provided [RCV003456709] Chr10:73235201 [GRCh38]
Chr10:74994959 [GRCh37]
Chr10:10q22.2		 likely benign
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
NM_173348.2(FAM149B1):c.234C>T (p.Gly78=) single nucleotide variant not provided [RCV003441197] Chr10:73177927 [GRCh38]
Chr10:74937685 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.660C>A (p.Ile220=) single nucleotide variant not provided [RCV003456708] Chr10:73208736 [GRCh38]
Chr10:74968494 [GRCh37]
Chr10:10q22.2		 likely benign
NM_173348.2(FAM149B1):c.300C>T (p.Ala100=) single nucleotide variant not provided [RCV003417497] Chr10:73192573 [GRCh38]
Chr10:74952331 [GRCh37]
Chr10:10q22.2		 likely benign
NM_173348.2(FAM149B1):c.585T>C (p.Tyr195=) single nucleotide variant not provided [RCV003417498] Chr10:73208661 [GRCh38]
Chr10:74968419 [GRCh37]
Chr10:10q22.2		 likely benign
NM_173348.2(FAM149B1):c.621C>T (p.Ser207=) single nucleotide variant not provided [RCV003417499] Chr10:73208697 [GRCh38]
Chr10:74968455 [GRCh37]
Chr10:10q22.2		 likely benign
NM_173348.2(FAM149B1):c.1028G>C (p.Ser343Thr) single nucleotide variant not provided [RCV003417500] Chr10:73230426 [GRCh38]
Chr10:74990184 [GRCh37]
Chr10:10q22.2		 likely benign
NM_173348.2(FAM149B1):c.1482C>T (p.Pro494=) single nucleotide variant not provided [RCV003417501] Chr10:73235198 [GRCh38]
Chr10:74994956 [GRCh37]
Chr10:10q22.2		 likely benign
NM_173348.2(FAM149B1):c.1189T>G (p.Trp397Gly) single nucleotide variant Joubert syndrome 36 [RCV003492999] Chr10:73233000 [GRCh38]
Chr10:74992758 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1563_1567del (p.Asp522fs) deletion Joubert syndrome 36 [RCV003493000] Chr10:73235279..73235283 [GRCh38]
Chr10:74995037..74995041 [GRCh37]
Chr10:10q22.2		 uncertain significance
GRCh37/hg19 10q22.1-22.2(chr10:74472028-75019111)x3 copy number gain not specified [RCV003986877] Chr10:74472028..75019111 [GRCh37]
Chr10:10q22.1-22.2		 uncertain significance
NM_173348.2(FAM149B1):c.2T>G (p.Met1Arg) single nucleotide variant Joubert syndrome 36 [RCV004442736]|not specified [RCV004701908] Chr10:73168341 [GRCh38]
Chr10:74928099 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1128-2A>G single nucleotide variant not specified [RCV004527257] Chr10:73232937 [GRCh38]
Chr10:74992695 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1402C>T (p.Arg468Ter) single nucleotide variant Joubert syndrome 36 [RCV003990217] Chr10:73234866 [GRCh38]
Chr10:74994624 [GRCh37]
Chr10:10q22.2		 likely pathogenic
NM_173348.2(FAM149B1):c.1389G>A (p.Pro463=) single nucleotide variant FAM149B1-related disorder [RCV003949649] Chr10:73234853 [GRCh38]
Chr10:74994611 [GRCh37]
Chr10:10q22.2		 likely benign
NM_173348.2(FAM149B1):c.1417C>T (p.Pro473Ser) single nucleotide variant FAM149B1-related disorder [RCV003931572] Chr10:73234881 [GRCh38]
Chr10:74994639 [GRCh37]
Chr10:10q22.2		 likely benign
NM_173348.2(FAM149B1):c.1626A>G (p.Ser542=) single nucleotide variant not provided [RCV003884880] Chr10:73239335 [GRCh38]
Chr10:74999093 [GRCh37]
Chr10:10q22.2		 likely benign
NM_173348.2(FAM149B1):c.1079A>G (p.His360Arg) single nucleotide variant not specified [RCV004378750] Chr10:73230477 [GRCh38]
Chr10:74990235 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1343G>A (p.Gly448Glu) single nucleotide variant not specified [RCV004378756] Chr10:73233154 [GRCh38]
Chr10:74992912 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1068T>G (p.Asp356Glu) single nucleotide variant not specified [RCV004378749] Chr10:73230466 [GRCh38]
Chr10:74990224 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.713A>T (p.Glu238Val) single nucleotide variant not specified [RCV004378760] Chr10:73210253 [GRCh38]
Chr10:74970011 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1273A>G (p.Thr425Ala) single nucleotide variant not specified [RCV004378755] Chr10:73233084 [GRCh38]
Chr10:74992842 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.166A>G (p.Thr56Ala) single nucleotide variant not specified [RCV004378757] Chr10:73177859 [GRCh38]
Chr10:74937617 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.410G>A (p.Ser137Asn) single nucleotide variant not specified [RCV004378758] Chr10:73192683 [GRCh38]
Chr10:74952441 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.499G>A (p.Ala167Thr) single nucleotide variant not specified [RCV004378759] Chr10:73193550 [GRCh38]
Chr10:74953308 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.917C>A (p.Ala306Glu) single nucleotide variant not specified [RCV004378764] Chr10:73228078 [GRCh38]
Chr10:74987836 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1127+1G>A single nucleotide variant Joubert syndrome 36 [RCV004560508] Chr10:73230526 [GRCh38]
Chr10:74990284 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_173348.2(FAM149B1):c.1198C>T (p.Arg400Ter) single nucleotide variant Joubert syndrome 36 [RCV004560473] Chr10:73233009 [GRCh38]
Chr10:74992767 [GRCh37]
Chr10:10q22.2		 pathogenic
NM_173348.2(FAM149B1):c.848T>C (p.Val283Ala) single nucleotide variant not specified [RCV004378763] Chr10:73210388 [GRCh38]
Chr10:74970146 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1106T>G (p.Leu369Arg) single nucleotide variant not specified [RCV004378751] Chr10:73230504 [GRCh38]
Chr10:74990262 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1188T>G (p.Asn396Lys) single nucleotide variant not specified [RCV004378752] Chr10:73232999 [GRCh38]
Chr10:74992757 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.789T>G (p.Phe263Leu) single nucleotide variant not specified [RCV004378761] Chr10:73210329 [GRCh38]
Chr10:74970087 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1199G>A (p.Arg400Gln) single nucleotide variant not specified [RCV004378754] Chr10:73233010 [GRCh38]
Chr10:74992768 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.349G>A (p.Glu117Lys) single nucleotide variant not specified [RCV004625303] Chr10:73192622 [GRCh38]
Chr10:74952380 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1489G>A (p.Asp497Asn) single nucleotide variant not specified [RCV004625304] Chr10:73235205 [GRCh38]
Chr10:74994963 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.602C>G (p.Ser201Cys) single nucleotide variant not specified [RCV004625305] Chr10:73208678 [GRCh38]
Chr10:74968436 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1396_1397del (p.Leu466fs) deletion not provided [RCV004725801] Chr10:73234860..73234861 [GRCh38]
Chr10:74994618..74994619 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1610C>T (p.Thr537Ile) single nucleotide variant not provided [RCV004729562] Chr10:73239319 [GRCh38]
Chr10:74999077 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.592_598del (p.Lys198fs) deletion not provided [RCV004775167] Chr10:73208665..73208671 [GRCh38]
Chr10:74968423..74968429 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.1192C>T (p.Pro398Ser) single nucleotide variant not provided [RCV004775273] Chr10:73233003 [GRCh38]
Chr10:74992761 [GRCh37]
Chr10:10q22.2		 uncertain significance
NM_173348.2(FAM149B1):c.666_669del (p.Glu223_Gly224insTer) deletion not provided [RCV004775272] Chr10:73208742..73208745 [GRCh38]
Chr10:74968500..74968503 [GRCh37]
Chr10:10q22.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2227
Count of miRNA genes:958
Interacting mature miRNAs:1142
Transcripts:ENST00000242505, ENST00000372955, ENST00000445951, ENST00000466261, ENST00000468462, ENST00000470798, ENST00000475829, ENST00000607940
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407224921GWAS873897_Hlow density lipoprotein cholesterol measurement QTL GWAS873897 (human)2e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)107323164273231643Human

Markers in Region
SHGC-32362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371074,995,091 - 74,995,215UniSTSGRCh37
Build 361074,665,097 - 74,665,221RGDNCBI36
Celera1068,280,714 - 68,280,838RGD
Cytogenetic Map10q22.2UniSTS
HuRef1068,988,951 - 68,989,075UniSTS
Stanford-G3 RH Map103431.0UniSTS
GeneMap99-GB4 RH Map10379.37UniSTS
Whitehead-RH Map10453.1UniSTS
GeneMap99-G3 RH Map103407.0UniSTS
SGC32014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371075,001,749 - 75,001,875UniSTSGRCh37
Build 361074,671,755 - 74,671,881RGDNCBI36
Celera1068,287,372 - 68,287,498RGD
Cytogenetic Map10q22.2UniSTS
HuRef1068,995,609 - 68,995,735UniSTS
GeneMap99-GB4 RH Map10378.44UniSTS
Whitehead-RH Map10453.1UniSTS
A005P38  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371075,001,069 - 75,001,221UniSTSGRCh37
Build 361074,671,075 - 74,671,227RGDNCBI36
Celera1068,286,692 - 68,286,844RGD
Cytogenetic Map10q22.2UniSTS
HuRef1068,994,929 - 68,995,081UniSTS
GeneMap99-GB4 RH Map10379.27UniSTS
NCBI RH Map10918.0UniSTS
HSC0RG102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371074,999,498 - 74,999,699UniSTSGRCh37
Build 361074,669,504 - 74,669,705RGDNCBI36
Celera1068,285,121 - 68,285,322RGD
Cytogenetic Map10q22.2UniSTS
HuRef1068,993,358 - 68,993,559UniSTS
GeneMap99-GB4 RH Map10379.16UniSTS
Whitehead-RH Map10456.7UniSTS
Cda1lf04  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371074,995,027 - 74,995,132UniSTSGRCh37
Build 361074,665,033 - 74,665,138RGDNCBI36
Celera1573,718,320 - 73,718,425UniSTS
Celera1068,280,650 - 68,280,755RGD
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map15q26.2UniSTS
HuRef1573,431,414 - 73,431,519UniSTS
HuRef1068,988,887 - 68,988,992UniSTS
RH98701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371074,990,805 - 74,990,884UniSTSGRCh37
Build 361074,660,811 - 74,660,890RGDNCBI36
Celera1068,276,428 - 68,276,507RGD
Cytogenetic Map10q22.2UniSTS
HuRef1068,984,665 - 68,984,744UniSTS
GeneMap99-GB4 RH Map10379.47UniSTS
RH28295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371075,001,873 - 75,001,955UniSTSGRCh37
Build 361074,671,879 - 74,671,961RGDNCBI36
Celera1068,287,496 - 68,287,578RGD
Cytogenetic Map10q22.2UniSTS
HuRef1068,995,733 - 68,995,815UniSTS
WI-15528  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371074,999,435 - 74,999,563UniSTSGRCh37
Build 361074,669,441 - 74,669,569RGDNCBI36
Celera1068,285,058 - 68,285,186RGD
Cytogenetic Map10q22.2UniSTS
HuRef1068,993,295 - 68,993,423UniSTS
GeneMap99-GB4 RH Map10378.78UniSTS
Whitehead-RH Map10456.7UniSTS
DNAJC9_8008  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371468,266,322 - 68,267,050UniSTSGRCh37
GRCh371075,002,434 - 75,003,162UniSTSGRCh37
Build 361074,672,440 - 74,673,168RGDNCBI36
Celera1448,325,340 - 48,326,068UniSTS
Celera1068,288,057 - 68,288,785RGD
HuRef1448,435,637 - 48,436,365UniSTS
HuRef1068,996,294 - 68,997,022UniSTS
D10S2398  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371074,994,336 - 74,994,478UniSTSGRCh37
Build 361074,664,342 - 74,664,484RGDNCBI36
Celera1068,279,959 - 68,280,101RGD
Cytogenetic Map10q22.2UniSTS
HuRef1068,988,196 - 68,988,338UniSTS
Stanford-G3 RH Map103363.0UniSTS
NCBI RH Map10920.5UniSTS
GeneMap99-G3 RH Map103339.0UniSTS
A004V38  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371075,001,828 - 75,001,974UniSTSGRCh37
Build 361074,671,834 - 74,671,980RGDNCBI36
Celera1068,287,451 - 68,287,597RGD
Cytogenetic Map10q22.2UniSTS
HuRef1068,995,688 - 68,995,834UniSTS
GeneMap99-GB4 RH Map10378.34UniSTS
Whitehead-RH Map10450.5UniSTS
STS-R05800  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371074,992,113 - 74,992,241UniSTSGRCh37
Build 361074,662,119 - 74,662,247RGDNCBI36
Celera1068,277,736 - 68,277,864RGD
Cytogenetic Map10q22.2UniSTS
HuRef1068,985,973 - 68,986,101UniSTS
GeneMap99-GB4 RH Map10378.78UniSTS
NCBI RH Map10922.4UniSTS
G32259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371075,001,069 - 75,001,221UniSTSGRCh37
Celera1068,286,692 - 68,286,844UniSTS
Cytogenetic Map10q22.2UniSTS
HuRef1068,994,929 - 68,995,081UniSTS
RH69462  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q22.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4942 1723 2345 4 622 1947 464 2268 7280 6453 52 3708 847 1731 1612 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_173348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_945712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_945713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_945714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB023191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM977866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC340839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000242505   ⟹   ENSP00000242505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1073,168,119 - 73,244,504 (+)Ensembl
Ensembl Acc Id: ENST00000372955   ⟹   ENSP00000362046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1073,177,872 - 73,235,452 (+)Ensembl
Ensembl Acc Id: ENST00000445951   ⟹   ENSP00000402293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1073,208,692 - 73,242,180 (+)Ensembl
Ensembl Acc Id: ENST00000466261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1073,230,296 - 73,235,309 (+)Ensembl
Ensembl Acc Id: ENST00000468462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1073,234,108 - 73,242,181 (+)Ensembl
Ensembl Acc Id: ENST00000470798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1073,228,107 - 73,235,481 (+)Ensembl
Ensembl Acc Id: ENST00000475829   ⟹   ENSP00000476913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1073,210,267 - 73,235,452 (+)Ensembl
Ensembl Acc Id: ENST00000607940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1073,230,473 - 73,231,306 (+)Ensembl
RefSeq Acc Id: NM_173348   ⟹   NP_775483
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381073,168,119 - 73,244,504 (+)NCBI
GRCh371074,927,877 - 75,002,435 (+)NCBI
Celera1068,213,504 - 68,287,562 (+)RGD
HuRef1068,921,813 - 68,995,799 (+)ENTREZGENE
CHM1_11075,209,625 - 75,283,656 (+)NCBI
T2T-CHM13v2.01074,039,512 - 74,115,884 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005269744   ⟹   XP_005269801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381073,168,119 - 73,235,452 (+)NCBI
GRCh371074,927,877 - 75,002,435 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539740   ⟹   XP_011538042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381073,168,119 - 73,225,171 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016167   ⟹   XP_016871656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381073,168,119 - 73,228,049 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047425142   ⟹   XP_047281098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381073,174,687 - 73,235,452 (+)NCBI
RefSeq Acc Id: XM_047425143   ⟹   XP_047281099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381073,168,119 - 73,234,905 (+)NCBI
RefSeq Acc Id: XM_047425144   ⟹   XP_047281100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381073,168,119 - 73,228,146 (+)NCBI
RefSeq Acc Id: XM_047425145   ⟹   XP_047281101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381073,171,935 - 73,228,184 (+)NCBI
RefSeq Acc Id: XM_054365696   ⟹   XP_054221671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01074,039,512 - 74,108,644 (+)NCBI
RefSeq Acc Id: XM_054365697   ⟹   XP_054221672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01074,039,482 - 74,108,644 (+)NCBI
RefSeq Acc Id: XM_054365698   ⟹   XP_054221673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01074,039,512 - 74,106,285 (+)NCBI
RefSeq Acc Id: XM_054365699   ⟹   XP_054221674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01074,039,512 - 74,099,429 (+)NCBI
RefSeq Acc Id: XM_054365700   ⟹   XP_054221675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01074,039,512 - 74,094,272 (+)NCBI
RefSeq Acc Id: XM_054365701   ⟹   XP_054221676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01074,039,512 - 74,099,526 (+)NCBI
RefSeq Acc Id: XM_054365702   ⟹   XP_054221677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01074,039,474 - 74,099,564 (+)NCBI
RefSeq Acc Id: NP_775483   ⟸   NM_173348
- UniProtKB: Q9Y2I0 (UniProtKB/Swiss-Prot),   Q96BN6 (UniProtKB/Swiss-Prot),   H7BY93 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005269801   ⟸   XM_005269744
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011538042   ⟸   XM_011539740
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016871656   ⟸   XM_017016167
- Peptide Label: isoform X4
- Sequence:
Ensembl Acc Id: ENSP00000362046   ⟸   ENST00000372955
Ensembl Acc Id: ENSP00000242505   ⟸   ENST00000242505
Ensembl Acc Id: ENSP00000402293   ⟸   ENST00000445951
Ensembl Acc Id: ENSP00000476913   ⟸   ENST00000475829
RefSeq Acc Id: XP_047281099   ⟸   XM_047425143
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047281100   ⟸   XM_047425144
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047281101   ⟸   XM_047425145
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047281098   ⟸   XM_047425142
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054221677   ⟸   XM_054365702
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054221672   ⟸   XM_054365697
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054221671   ⟸   XM_054365696
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054221673   ⟸   XM_054365698
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054221676   ⟸   XM_054365701
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054221674   ⟸   XM_054365699
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054221675   ⟸   XM_054365700
- Peptide Label: isoform X5
Protein Domains
DUF3719

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96BN6-F1-model_v2 AlphaFold Q96BN6 1-582 view protein structure

Promoters
RGD ID:7217835
Promoter ID:EPDNEW_H14663
Type:initiation region
Name:FAM149B1_1
Description:family with sequence similarity 149 member B1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381073,168,119 - 73,168,179EPDNEW
RGD ID:6787696
Promoter ID:HG_KWN:10025
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000145442
Position:
Human AssemblyChrPosition (strand)Source
Build 361074,660,226 - 74,660,726 (+)MPROMDB
RGD ID:6787694
Promoter ID:HG_KWN:10026
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562
Transcripts:OTTHUMT00000145441
Position:
Human AssemblyChrPosition (strand)Source
Build 361074,664,419 - 74,664,919 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29162 AgrOrtholog
COSMIC FAM149B1 COSMIC
Ensembl Genes ENSG00000138286 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000242505 ENTREZGENE
  ENST00000242505.11 UniProtKB/Swiss-Prot
  ENST00000372955 ENTREZGENE
  ENST00000372955.7 UniProtKB/TrEMBL
  ENST00000445951.5 UniProtKB/TrEMBL
  ENST00000475829.5 UniProtKB/TrEMBL
GTEx ENSG00000138286 GTEx
HGNC ID HGNC:29162 ENTREZGENE
Human Proteome Map FAM149B1 Human Proteome Map
InterPro DUF3719 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAM149 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:317662 UniProtKB/Swiss-Prot
NCBI Gene 317662 ENTREZGENE
OMIM 618413 OMIM
PANTHER PRIMARY CILIUM ASSEMBLY PROTEIN FAM149B1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR31997 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF3719 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162386399 PharmGKB
UniProt F149B_HUMAN UniProtKB/Swiss-Prot
  H0Y607_HUMAN UniProtKB/TrEMBL
  H7BY93 ENTREZGENE, UniProtKB/TrEMBL
  Q96BN6 ENTREZGENE
  Q9Y2I0 ENTREZGENE
  V9GYM5_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q9Y2I0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 FAM149B1  family with sequence similarity 149 member B1    family with sequence similarity 149, member B1  Symbol and/or name change 5135510 APPROVED