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Gene

FAM149B1

family with sequence similarity 149 member B1

Summary

Cytogenetic location
10q22.2
Coordinates
Chromosome 10: 73,168,119–73,244,504 (GRCh38)
Exons
14 exons across 76.4 kb
Protein
582 amino acids
Previous symbols
KIAA0974
MANE Select transcript
ENST00000242505.11NM_173348.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Joubert Syndrome And Related Disorders

    • Joubert Syndrome

      A ciliopathy defined by a malformation of the cerebellum and brainstem (the molar tooth sign), with low muscle tone, developmental delay and abnormal eye movements, sometimes with kidney, liver or eye involvement.

      • ClinGen rates the link moderate
      • 3 GenCC submitters rate it definitive or strong

How FAM149B1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 10, with a bracket where FAM149B1 sits. FAM149B1 and 16 genes near it on chromosome 10, from 72,706,312 to 73,706,311.Chromosome 1010q22.2p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.372.8 Mb73 Mb73.2 Mb73.4 Mb73.6 MbMCU: 72,692,088–72,887,694, forward strandMCUOIT3: 72,893,573–72,933,036, forward strandOIT3PLA2G12B: 72,913,141–72,954,885, reverse strandPLA2G12BP4HA1: 73,005,811–73,097,108, reverse strandP4HA1ECD: 73,101,927–73,169,055, reverse strandECDNUDT13: 73,110,375–73,131,828, forward strandNUDT13FAM149B1: 73,168,119–73,244,504, forward strandFAM149B1DNAJC9: 73,183,362–73,247,319, reverse strandDNAJC9MRPS16: 73,248,760–73,252,693, reverse strandMRPS16CFAP70: 73,253,762–73,358,868, reverse strandCFAP70ANXA7: 73,365,027–73,414,731, reverse strandANXA7MSS51: 73,423,579–73,433,567, reverse strandMSS51PPP3CB: 73,436,418–73,496,034, reverse strandPPP3CBUSP54: 73,497,538–73,626,117, reverse strandUSP54MYOZ1: 73,631,556–73,642,103, reverse strandMYOZ1SYNPO2L: 73,644,881–73,663,803, reverse strandSYNPO2LAGAP5: 73,674,276–73,698,109, reverse strandAGAP5Diagram of FAM149B1: 14 exons on the forward strand of chromosome 10Exon 3: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 11: 1 known disease-causing siteExon 1: 73,168,119–73,168,386, 268 basesExon 2: 73,174,687–73,174,791, 105 basesExon 3: 73,177,846–73,177,975, 130 basesExon 4: 73,192,556–73,192,698, 143 basesExon 5: 73,193,477–73,193,593, 117 basesExon 6: 73,208,619–73,208,786, 168 basesExon 7: 73,210,251–73,210,438, 188 basesExon 8: 73,228,060–73,228,184, 125 basesExon 9: 73,230,422–73,230,525, 104 basesExon 10: 73,232,939–73,233,163, 225 basesExon 11: 73,234,817–73,234,940, 124 basesExon 12: 73,235,193–73,235,318, 126 basesExon 13: 73,239,312–73,239,384, 73 basesExon 14: 73,240,946–73,244,504, 3,559 bases124681012145′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 5.5 kb of the gene's 76.4 kb; 1,749 of those bases code for the protein.

How a genome test reads FAM149B1

10

positions in FAM149B1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 76.4 kb of FAM149B1, introns included, not only the 5.5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). FAM149B1 gene: family with sequence similarity 149 member B1. Retrieved 17 October 2026, from https://dantelabs.com/genes/fam149b1

Vancouver

Dante Labs. FAM149B1 gene: family with sequence similarity 149 member B1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fam149b1

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